What's So Special About Rare?

A CHES Publication

Spring/Summer 2022 I Volume 19

Special

What's so About

RARE? Females Are Important to be Recognized: FAIR Time For Women 504 or IEP: Making Sense of It All l Fueling for the Summer Recognizing and Responding to Unconscious Bias l And more!

Follow us to keep abreast of our programs and announcements

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LifeLines for HealthSM Disclaimers The views and opinions of our writers are not a reflection of Comprehensive Health Education ServicesTM, Inc. (CHES) or its sponsors.

This newsletter is designed to provide a forum for community members to express their views from an open and honest platform. It is meant to provide a sharing of knowledge and experience to help one another. Nothing in this newsletter is meant to replace the advice of your HTC, medical professional team or insurance provider. You are always urged to seek the opinion of a healthcare professional for treatment and your specific insurance provider for information.

We take your privacy very seriously. We would never disclose your personal health information without your express written consent. We would never sell nor make available our secure database to anyone.

Articles and pictures may not be reproduced, published, and/or placed on websites without the express written permission of CHES. In every publication of LifeLines for HealthSM, we will provide links to other websites that are not owned or controlled by CHES or its sponsors. We cannot be responsible for privacy practices of other website owners, nor can we be responsible for the accuracy of the information provided.

Letter From the Editors Here’s hoping that as we put the winter behind us and march into summer, that in person programming may be part of our future. We were grateful to see so many of you via our winter/spring virtual webinar series each Thursday evening. It was wonderful to see faces that are like family at HFA Symposium in April!

Programming in 2022 may continue to look a little different. We will follow CDC guidelines and are hoping for the best! nSpiration Foundation, as a 501 c 3 nonprofit, will collaborate with CHES to present After the Shock: an Inhibitor Family Camp, One Drop: THE Rare Bleeding Disorders Consortium, (which combines the previous F7 Retreat and GT Symposia programs) LadyBugs, and Momentum. Resources are limited to fund air travel, which is what makes nSpiration Foundation an important partner. It has the ability as a non-profit to accept donations and submit grants to a wider variety of resources. Please consider donating to continue the programs that mean so much to you.

Donate now!

In this issue of LifeLines for Health the focus is on ultra-rare bleeding disorders; a segment of the community that has been our focus since 2012. The F7 Retreat began in 2012 and has remained a very valuable resource for those with FVII deficiency. In 2016, we hosted the Glanzmann’s Thrombasthenia Symposia to expand the services available to the ultra-rare bleeding disorder community. Our friend, Dr. Gary McClain shares on a topic that is getting a lot of attention, unconscious bias and how that can affect your perception of people and even healthcare. Looking for ways to refuel and stay healthy this summer? Megan Allen tells us how in MindBody Connection. Have you heard about FAIR? Females are Important to be Recognized is a national movement that unites national stakeholders to coordinate efforts for the diagnosis, treatment, and care of women with bleeding disorders. We are excited to be a part of this initiative as proud sponsors of the LadyBugs program for ALL women with bleeding disorders.

Want more information about live programs and events near you? Go to www.nspiration.foundation. Be sure to check out our website at www. ches.education, like us on Facebook, and follow us on Instagram to stay apprised of how to keep up to date and connected to programs. If you have an idea, comment or suggestion, don’t hesitate to let us know at info@ches.education. We love hearing from you!

Enjoy all that the summer has to bring! Outdoor spaces, fresh air, sunshine and connecting with others. We look forward to seeing you soon!

- Janet Brewer & Eric Lowe

jbrewer@ches.education

elowe@ches.education

“I think tolerance, acceptance and love is something that feeds every community.” —Lady Gaga

1 n LIFELINES for HEALTH n Spring/Summer 2022

Integrity, Accuracy, Empathy...

FEATURE 9 I What's So Special About Rare?

It's been a long and difficult path for individuals and families managing bleeding disorders.

Luckily, the quality of life has greatly improved for Hemophilia A and B, as well as vonWillebrand's Disease, which make up the majority of the bleeding disorders population.

But the remaining 15-20% living with other various factor/platelet deficiencies is still decades behind in treatment and care. Progression is slow, but focus is growing as HCP's and organizations like nSpiration, CHES, and many others are rising to fight for equality.

CONTENTS WHAT’S NEW

BLOODLINES

6 I nSpiration Wins HAF Innovation Grant

35 I Product Updates at a Glance

The Hemophilia Alliance Foundation awarded the nSpiration foundation an innovation grant to help support nSpiration's project for SHEmophiliaTM, a passion for women with bleeding disorders to achieve equitable care.

New medications are always developing in the pipeline. Take a look at updates on a few of the most promising products.

7 I FAIR Time For Women FAIR (Females Are Important to be Recognized) is the new Women’s Coalition for Equality in Bleeding Disorders Care.

With a new name comes a refreshed approach to channel all resources in an effort to improve the care and needs of women with bleeding disorders.

MIND BODY CONNECTION 37 I Fueling for the Summer After an overwhelmingly strong response to a springtime webinar with registered dietitian, Megan Allen, we asked her for some pointers on feeding our families during the busy seasons of the year. And she did not disappoint with a serving of quick and organized grocery shopping, to a side of meals on the road, and topped with a variety of shortcuts!

FAMILY MATTERS 27 I Do You Know How That Makes Me Feel? Recognizing and Responding to Unconscious Bias Unconscious bias can be described as a judgement or assumption placed on someone or something based on his or her own teachings and experiences. Despite its unintentional demeanor, unconscious bias can still leave us feeling victimized if we're on the receiving end. Learn how to reduce unconscious bias as well as coping methods for yourself and teaching others.

WHAT'S THE PLAN? 43 I 504 or IEP: Making Sense of It All With over 20 years of experience in the world of special education, Janet Brewer, M.Ed explains two education plans to determine the right choice for any child.

CONTENTS

2022

Education Programs Virtual programming We'd like to thank all who attend our spring webinar series concentrating on the needs of the bleeding disorder community.

To receive info on additional upcoming programs and webinars visit: https://nspiration.foundation

Comprehensive Health Education Services has

LIVE

programs

with the Cold Agglutinin

been serving the needs of

Disease Foundation

those with rare bleeding

(CADF) and their virtual conference series that spanned from January to June 2022.

conditions since 2009.

August 19-22, 2022 Camp Zeke - Lakewood, PA

Cold A-what? You ask?

July 22-24, 2022 Westin Detroit Airport Hotel

Cold Agglutinin is a rare blood disorder that causes hemolysis (when healthy red blood cells are mistakenly destroyed by the body causing symptoms such as anemia, shortness of breath and bluish discoloration of the hands and feet.) Cold temperatures can trigger symptoms, including air conditioning.

As long time members of the bleeding disorder community, our mission is to inspire awareness and self-reliance for patients with chronic health

Think you may know someone with CAD or want to know more about it? Check out the CADF website at https:// coldagglutinindisease.org/.

conditions, their families, and their communities.

More details on our programs can be found on our website: www.ches.education

We are excited...

for our continued partnership

Nov. 2-4, 2022 Westin Detroit Airport Hotel

We are thrilled to partner with this amazing group of individuals to assist in their mission to provide education and support for those managing CAD.

MY DECIDING FACTOR: Making time for what matters most.

• VONVENDI® is the first and only treatment approved for routine use (prophylaxis) in adults with severe Type 3 VWD who previously received on-demand therapy

• VONVENDI is also approved for on-demand and surgical bleed management in adults with all types of VWD

• VONVENDI replaces VWF (the main issue behind VWD), and may be used with or without recombinant factor VIII as instructed by your healthcare provider

Erica VONVENDI Use: On-Demand & Surgery

Are you ready to ask about VONVENDI for your VWD? Visit VONVENDI.com to learn more, and talk to your healthcare provider.

VWD=von Willebrand disease; VWF=von Willebrand factor.

VONVENDI [von Willebrand factor (Recombinant)] Important Information What is VONVENDI? VONVENDI is used in adults (age 18 years and older) diagnosed with von Willebrand disease to: • treat and control bleeding episodes • prevent excessive bleeding during and after surgery • reduce the number of bleeding episodes when used regularly (prophylaxis) in adults with severe Type 3 von Willebrand disease receiving on-demand therapy

Detailed Important Risk Information Who should not use VONVENDI? You should not use VONVENDI if you:

• Are allergic to any ingredients in VONVENDI. • Are allergic to mice or hamsters.

Tell your healthcare provider if you are pregnant or breastfeeding because VONVENDI may not be right for you.

How should I use VONVENDI? Your first dose of VONVENDI for each bleeding episode may be administered with a recombinant factor VIII as instructed by your healthcare provider.

Your healthcare provider will instruct you whether additional doses of VONVENDI with or without recombinant factor VIII are needed.

• Are breastfeeding. It is not known if VONVENDI passes into your milk and if it can harm your baby.

• Are pregnant or planning to become pregnant. It is not known if VONVENDI can harm your unborn baby.

• Have been told that you have inhibitors to von Willebrand factor (because VONVENDI may not work for you).

• Have been told that you have inhibitors to blood coagulation factor VIII. What else should I know about VONVENDI and von Willebrand Disease?

Your body can form inhibitors to von Willebrand factor or factor VIII. An inhibitor is part of the body’s normal defense system. If you form inhibitors, it may stop VONVENDI or factor VIII from working properly.

Consult with your healthcare provider to make sure you are carefully monitored with blood tests for the development of inhibitors to von Willebrand factor or factor VIII. What are the possible side effects of VONVENDI? You can have an allergic reaction to VONVENDI. Call your healthcare provider right away and stop treatment if you get a rash or hives, itching, tightness of the throat, chest pain or tightness, difficulty breathing, lightheadedness, dizziness, nausea or fainting.

Side effects that have been reported with VONVENDI include: headache, nausea, vomiting, tingling or burning at infusion site, chest discomfort, dizziness, joint pain, joint injury, increased liver enzyme level in blood, hot flashes, itching, high blood pressure, muscle twitching, unusual taste, blood clots and increased heart rate.

What should I tell my healthcare provider before I use VONVENDI?

Tell your healthcare provider about any side effects that bother you or do not go away.

You should tell your healthcare provider if you: • Have or have had any medical problems.

• Take any medicines, including prescription and non-prescription medicines, such as over-the-counter medicines, supplements or herbal remedies.

• Have any allergies, including allergies to mice or hamsters.

You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch, or call 1-800-FDA-1088.

Please see the VONVENDI Consumer Brief Summary on the following page and talk to your healthcare provider.

Important facts about VONVENDI® [von Willebrand factor (Recombinant)] This leaflet summarizes important information about VONVENDI. Please read it carefully before using this medicine. This information does not take the place of talking with your healthcare provider.

What is VONVENDI?

What are the possible side effects of VONVENDI?

VONVENDI is a recombinant medicine used to replace low levels or not properly working von Willebrand factor in people with von Willebrand disease.

Von Willebrand disease is an inherited bleeding disorder in which blood does not clot normally.

VONVENDI is used in adults (age 18 years and older) diagnosed with von Willebrand disease to: • Treat and control bleeding episodes • Prevent excessive bleeding during and after surgery • Reduce the number of bleeding episodes when used regularly (prophylaxis) in adults with severe Type 3 von Willebrand disease receiving on-demand therapy.

Side effects that have been reported with VONVENDI include: headache, nausea, vomiting, tingling or burning at infusion site, chest discomfort, dizziness, joint pain, joint injury, increased liver enzyme level in blood, hot flashes, itching, high blood pressure, muscle twitching, unusual taste, blood clots and increased heart rate. These are not all the possible side effects with VONVENDI. You can ask your healthcare provider for information that is written for healthcare professionals.

Tell your healthcare provider about any side effects that bother you or do not go away.

Who should not use VONVENDI?

Consult with your healthcare provider to make sure you are carefully monitored with blood tests to measure levels of von Willebrand factor and factor VIII so they are right for you.

You may infuse VONVENDI at a hemophilia treatment center (HTC), at your healthcare provider’s office or in your home. You should be trained on how to do infusions by your healthcare provider or HTC. Many people with von Willebrand disease learn to infuse VONVENDI by themselves or with the help of a family member.

Call your healthcare provider right away if your bleeding does not stop after taking VONVENDI. Medicines are sometimes prescribed for purposes other than those listed here. Do not use VONVENDI for a condition for which it is not prescribed.

Do not share VONVENDI with other people, even if they have the same symptoms that you have.

You should not use VONVENDI if you: • Are allergic to any ingredients in VONVENDI. • Are allergic to mice or hamsters.

Tell your healthcare provider if you are pregnant or breastfeeding because VONVENDI may not be right for you.

What should I tell my doctor before I use VONVENDI? You should tell your healthcare provider if you: • Have or have had any medical problems.

• Take any medicines, including prescription and non-prescription medicines, such as over-the-counter medicines, supplements or herbal remedies.

• Have any allergies, including allergies to mice or hamsters.

• Are breastfeeding. It is not known if VONVENDI passes into your milk and if it can harm your baby.

• Are pregnant or planning to become pregnant. It is not known if VONVENDI can harm your unborn baby.

• Have been told that you have inhibitors to von Willebrand factor (because VONVENDI may not work for you).

• Have been told that you have inhibitors to blood coagulation factor VIII.

What is the most important information I need to know about VONVENDI? VONVENDI can cause blood clots particularly in patients with known risk factors for blood clots. Discuss this risk with your healthcare provider.

You can have allergic reactions to VONVENDI. Symptoms may include generalized itching; rash or hives; rapid swelling of the skin or mucous membranes; chest pain or tightness; tightness of the throat; low blood pressure; shock; drowsiness; nausea; vomiting; tingling, prickling, burning, or numbness of the skin; restlessness; wheezing and/or difficulty breathing; lightheadedness; dizziness; or fainting. If symptoms occur, stop using VONVENDI immediately and get emergency treatment right away.

Your body can form inhibitors to von Willebrand factor or factor VIII. An inhibitor is part of the body’s normal defense system. If you form inhibitors, they may stop VONVENDI or FVIII from working properly. Consult with your healthcare provider to make sure you are carefully monitored with blood tests for the development of inhibitors to von Willebrand factor or factor VIII.

What else should I know about VONVENDI and von Willebrand Disease?

The risk information provided here is not comprehensive. To learn more, talk with your healthcare provider or pharmacist about Vonvendi. The FDA approved product labeling can be found at https:\\www.shirecontent.com/PI/PDFs/VONVENDI_USA_ENG.pdf or call 1-877-TAKEDA-7 (1-877-825-3327).

You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch, or call 1-800-FDA-1088.

Copyright ©2022 Takeda Pharmaceuticals U.S.A., Inc. 300 Shire Way, Lexington, MA 02421. 1-877-TAKEDA-7 (1-877-825-3327).

All rights reserved.

TAKEDA and the TAKEDA logo are trademarks or registered trademarks of Takeda Pharmaceutical Company Limited.

VONVENDI is a registered trademark of Baxalta Incorporated, a Takeda company.

Revised: 01/2022 US-VON-0601v1.0 01/22

©2022 Takeda Pharmaceuticals U.S.A., Inc. 300 Shire Way, Lexington, MA 02421. 1-877-TAKEDA-7 (1-877-825-3327). All rights reserved. TAKEDA and the TAKEDA logo are trademarks or registered trademarks of Takeda Pharmaceutical Company Limited. VONVENDI is a registered trademark of Baxalta Incorporated, a Takeda company.

US-VON-0657v1.0 04/22

WINS

by Janet Brewer, M.Ed

Hemophilia Alliance Foundation

Innovation Grant

n

Spiration is thrilled to announce they are a winner of a Hemophilia Alliance Foundation Innovation 2022 Award for our project for women with bleeding disorders “What is SHEmophiliaTM?”.

The HAF Innovation grant’s goal is “to encourage larger scale, creative, and unique projects, and to serve the community with resources that will improve the lives of patients with inheritable blood disorders.”

Our project, “What is SHEmophilia?”, is a national collaborative program to raise awareness of women’s existing barriers for adequate healthcare.

The year-long project will consist of videos produced by Quennel Worthy of Blurred Vision Entertainment, podcasts with Patrick James Lynch of Believe Ltd, and web-based resources.

WHAT IS

HAF said “Your application scored well and we are enthusiastic about the project. The continued and ongoing need for education for women with bleeding disorders is important and we look forward to the short films and new website and know that this will be shared across the country.”

We are massively grateful to HAF for supporting “What is SHEmophilia?” and are thrilled to get started on this exciting project.

For more information about the project, or nSpiration itself, please contact us by using the QR code.

shemophilia?

6 n LIFELINES for HEALTH n Spring/Summer 2022

WHAT’S NEW?

Females A re I mp mportant rtant to t be Rec ecognized gnized

FAIR Advisory Committee Janet Brewer, CHES/ (nSpiration) Lew Wyman-Collins Kimberly Haugstad, UpEquity Stormy Johnson Patrick James Lynch, Believe Ltd. John Martinez, BioMatrix Specialty Pharmacy Dr. Danielle Nance Rocio Nunez, Latino Hemophilia Foundation Dawn Rotellini, NHF Dr. Robert Sidonio

7 n LIFELINES for HEALTH n Spring/Summer 2022

FTFW

FAIR Time For Women

O

n June 1, 2022, nearly 50 national stakeholders from the bleeding disorders community were invited to collaboratively support women in the bleeding disorders community to accomplish three specific goals; enable diagnosis, treatment, and access to medication for women with bleeding disorders. Originally formed under the name Women’s Coalition for Equality in Bleeding Disorders Care, the idea was conceptualized by Education and Advocacy Director, Ashley Gregory, Hemophilia Foundation of Northern California, and Ray Dattoli, lifelong community member and advocate.

FAIR seeks to unite our nationwide stakeholders by utilizing currently existing initiatives such as HFA’s Bleeders Bill of Rights (2015), NHF MASAC Recommendations, patient advocacy organizations, physicians, and industry to achieve these goals and ensure the voices of women with bleeding disorders experiencing lack of access to diagnosis, care, and treatment are heard.

https://www.hemophilia.org/healthcare-professionals/guidelines-on-care/masac-documents/ masac-document-264-masac-recommendations-regarding-diagnosis-and-management-ofinherited-bleeding-disorders-in-girls-and-women-with-personal-and-family-history-of-bleeding 03/04/2021

https://www.hemophilia.org/healthcare-professionals/guidelines-on-care/masac-documents/ masac-document-269-standards-and-criteria-for-the-care-of-persons-with-congenitalbleeding-disorders Women’s Health Services and Equitable Access and Diagnosis and Treatment at HTC’s 04/29/2022

WHAT’S NEW?

Special

What's so

RARE?

9 n LIFELINES for HEALTH n Spring/Summer 2022

About

By: Janet Brewer, M.Ed

A

lthough hemophilia A, hemophilia B, and vonWillebrand Disease are characterized as rare bleeding disorders (affecting fewer than 200,000 in the US), and account for 80-85% of the bleeding/coagulation disorders, rare factor deficiencies such as FI, FII, FV, FVII, FX, FXI, FXII and FXIII and rare platelet disorders such as Glanzmann’s Thrombasthenia, Bernard-Soulier, and Platelet Storage Pool Disorders are considered to be ultra-rare, making up for 15% of bleeding/coagulation disorders.

Given their low incidence, little is known about them, and establishing research studies is challenging because of the small number of patients.

Until recently, those affected by them have struggled with obtaining a diagnosis, treatment, proper care, and understanding, BUT we still have a long way to go.

FEATURE

The majority of ultra-rare bleeding disorders follow an autosomal recessive inheritance pattern, meaning a child inherits one mutated copy of a gene from each parent.

The parents are typically carriers and do not have the disorder.

General features of autosomal recessive deficiency of coagulation factors

Deficiency

Estimated prevalence

Fibrinogen

1 in 1 million

Including dysfunctional proteins

Gene (chromosome)

Laboratory diagnosis

FGA, FGB, FGG (all on 4q28)

Afibrinogenemia: TT ↑↑, APTT ↑↑, PT ↑↑ Dys- and Hypodisfibrinogenemia: TT ↑, APTT ↑, PT ↑↑

Prothrombin

1 in 2 million

F2 (11p11–q12)

TT normal, APTT ↑, PT ↑

Factor V

1 in 1 million

F5 (1q24.2)

TT normal, APTT ↑, PT ↑

Combined factor V and VIII

1 in 1 million

LMAN1 (18q21.3– q22)

TT normal, APTT ↑, PT ↑

MCFD2 (2p21–p16.3) Factor VII

1 in 500,000

F7 (13q34)

TT normal, APTT normal, PT ↑

Factor X

1 in 1 million

F10 (13q34)

TT normal, APTT ↑, PT ↑

Factor XI

1 in 1 million

F11 (4q35.2)

TT normal, APTT ↑, PT normal

Factor XIII

1 in 2 million

F13A1 (6p24–p25)

TT normal, APTT normal, PT normal Specific assays required

F13B (1q31–q32.1)

TT normal, APTT normal, PT normal Specific assays required

Vitamin-K dependent coagulation factors

Reported in <50 families

GGCX (2p12) VKORC1 (16p11.2)

TT normal, APTT ↑, PT ↑↑

APTT--activated activated partial thromboplastin APTT partial thromboplastin time time l PT - prothrombin time l TT - thrombin time PT - prothrombin time *Including dysfunctional proteins TT - thrombin time Web Source:

ASH Publications, Inherited Bleeding Disorders (March 2015) Roberta Palla, Flora Peyvandi, and Amy D. Shapiro

https://ashpublications.org/blood/article/125/13/2052/33968/Rare-bleeding-disorders-diagnosisand-treatment

11 n LIFELINES for HEALTH n Spring/Summer 2022

Symptoms of a Bleeding Dis rder Joint/Muscle bleeds

Excessive bruising

Increased bleeding after minor injury or surgery

Heavy menstrual bleeding

Excessive nose bleeds

Excessive gum bleeding

FEATURE

HTC Population Profile Patient Characteristics

FI

RARE FACTOR DEFICIENCIES (excluding FVIIId & FIXd)

Data Reported from 1/1/2012 through 3/31/2022

Age (years)

Sex†

Ethnicity

Race

Insurance Status

(%)

#

FV

(%)

#

c

(%)

# of patients

446 (100) 125 (100) 597 (100) 2

<2

35

2–10

112 (25) 18 (14) 77 (13)

11–19

119 (27) 52 (42) 197 (33)

20–44

116 (26) 31 (25) 194 (32)

45–64

42

(9)

14 (11) 82 (14)

65+

22

(5)

*

Male

194 (43) 45 (36) 227 (38)

1

Female

252 (57) 80 (64) 370 (62)

1

Hispanic, Latino/a, or Spanish origin

52 (12)

Not Hispanic, Latino/a, or Spanish origin

374 (84) 84 (67) 481 (81)

Unknown

20

(4)

*

*

22

(4)

American Indian/Alaska Native

*

*

*

*

*

*

Asian

21

(5)

*

*

16

(3)

Black or African American

24

(5)

*

*

19

(3)

Native Hawaiian or other Pacific Islander

*

*

*

*

*

*

White

354 (79) 103 (82) 507 (85)

More than one of these

*

*

*

*

*

Unknown

40

(9)

12 (10) 46

(8)

Insured

425 (95) 118 (94) 586 (98)

Uninsured

*

*

*

*

*

*

Unknown

*

*

*

*

*

*

Yes

12

(3)

7

(6)

12

(2)

History of HCV infection No

History of HIV infection

#

FII

(8)

*

*

*

*

*

*

17

30

(3)

(5)

94 (16)

309 (69) 68 (54) 429 (72)

Unknown

125 (28) 50 (40) 156 (26)

Yes

*

No

320 (72) 75 (60) 437 (73)

Unknown

*

* *

* *

* *

Note. This table excludes individuals with Factor VIII deficiency (hemophilia A) and Factor IX deficiency (hemophilia B).

“Factors V & VIII, combined” refers to an autosomal condition, which occurs when there is a defect in a gene on one of the first 22 pairs of chromosomes called autosomes. Hemophilia A and B are X-linked conditions, which occur when there is a defect on the 23rd pair of chromosomes which determine one’s sex. * Counts of five or fewer have been suppressed to protect patient confidentiality. Additional cells may be suppressed to prevent derivation of these counts by subtraction.

13 n LIFELINES for HEALTH n Spring/Summer 2022

* *

2

1

2

1

* *

1

)

Factors V & VIII, combined #

0) 24

(%)

FVII #

FX

(%)

#

FXI

(%)

#

(%)

FXIII

Alpha-2 Antiplasmin Def.

PAI-1 Def.

#

#

#

(%)

(%)

(%)

(100) 2850 (100) 310 (100) 1714 (100) 273 (100) 14 (100) 361 (100)

)

*

*

51

(6)

*

*

9

3)

*

*

697 (24) 60 (19) 233 (14) 45 (16)

*

*

51 (14)

3)

6

(25) 1204 (42) 99 (32) 431 (25) 57 (21)

*

*

135 (37)

2)

8

(33)

637 (22) 78 (25) 519 (30) 111 (41)

*

*

109 (30)

4)

*

*

162

(6)

47 (15) 229 (13) 27 (10)

*

*

34

(9)

)

*

*

99

(3)

*

(6)

*

*

23

(6)

8)

11

(46) 1382 (48) 129 (42) 756 (44) 136 (50)

*

*

112 (31)

2)

13

(54) 1468 (52) 181 (58) 958 (56) 137 (50)

*

*

249 (69)

6)

*

*

*

*

*

70 (19)

1)

23

(96) 2079 (73) 227 (73) 1447 (84) 210 (77)

*

*

285 (79)

)

*

*

141

(5)

15

(5)

62

(4)

*

*

*

*

6

(2)

*

*

*

*

*

*

*

*

*

*

*

*

*

*

)

*

*

88

(3)

*

*

60

(4)

29 (11)

*

*

*

*

)

*

*

508 (18) 34 (11)

72

(4)

26 (10)

*

*

34

(9)

*

*

*

*

*

*

*

*

*

*

*

15

(63) 1911 (67) 222 (72) 1458 (85) 188 (69)

*

*

295 (82)

*

*

52

(2)

*

11

(1)

*

*

*

*

6

(2)

)

*

*

269

(9)

32 (10) 107

(6)

25

(9)

*

*

18

(5)

8)

22

(92) 2776 (97) 302 (97) 1673 (98) 264 (97)

*

*

345 (96)

*

*

32

(1)

*

*

16

(1)

*

*

*

*

*

*

*

*

42

(1)

*

*

25

(1)

*

*

*

*

*

*

)

*

*

28

(1)

9

(3)

32

(2)

10

(4)

*

*

*

*

2)

17

(71) 2153 (76) 229 (74) 1285 (75) 224 (82)

*

*

208 (58)

6)

*

*

669 (23) 72 (23) 397 (23) 39 (14)

*

*

*

*

*

*

*

*

*

*

*

*

17

(71) 2172 (76) 239 (77) 1318 (77) 236 (86)

*

*

208 (58)

*

*

*

*

*

5)

3)

(2)

*

*

74

*

(4)

228 (13) 16

630 (22) 68 (22) 205 (12)

*

*

* *

*

* *

* *

* *

17

9

(1)

387 (23)

*

* *

*

(2)

† The HTC Population Profile contains 47 transsexual individuals. For confidentiality purposes, the number of transsexual patients is too small to report by year or other characteristics. Transsexual patients have been included in the counts of male and female according to the sex assigned to them at birth since hemophilia and von Willebrand disease, the most common congenital bleeding disorders, affect the sexes differently.

On August 10, 2020, the responses for this question changed such that “Male to Female” (i.e., transsexual) and “Female to Male” were removed and “Intersex” was added. The number of intersex patients is too small to report by year or other characteristics; therefore, these counts have been excluded to protect patient confidentiality.

*

Web Source: CDC (Centers for Disease Control and Prevention) https://www.cdc.gov/ncbddd/hemophilia/communitycounts/datareports/2022-03/table-4-rare-factors.html

FEATURE

HTC Population Profile Patient Characteristics

PLATELET DISORDERS

Data Reported from 1/1/2012 through 3/31/2022

Age (years)

Sex†

Ethnicity

Race

Insurance Status

History of HCV infection History of HIV infection

Bernard Soulier syndrome

Glanzmann thrombasthenia

Gray platelet syndrome

#

(%)

#

(%)

#

(%)

# of patients

88

(100)

323

(100)

19

(100)

<2

*

*

*

*

*

*

2–10

23

(26)

64

(20)

*

*

11–19

27

(31)

98

(30)

9

(47)

20–44

26

(30)

101

(31)

*

*

45–64

6

(7)

39

(12)

*

*

65+

*

*

*

*

*

*

Male

43

(49)

158

(49)

9

(47)

Female

45

(51)

165

(51)

10

(53)

Hispanic, Latino/a, or Spanish origin

*

*

82

(25)

*

*

Not Hispanic, Latino/a, or Spanish origin

71

(81)

234

(72)

13

(68)

Unknown

*

*

7

(2)

*

*

American Indian/Alaska Native

*

*

*

*

*

*

Asian

*

*

37

(11)

*

*

Black or African American

8

(9)

54

(17)

*

*

Native Hawaiian or other Pacific Islander

*

*

*

*

*

*

White

73

(83)

209

(65)

11

(58)

More than one of these

*

*

*

*

*

*

Unknown

*

*

*

*

*

*

Insured

86

(98)

303

(94)

19

(100)

Uninsured

*

*

9

(3)

*

*

Unknown

*

*

11

(3)

*

*

Yes

*

*

14

(4)

*

*

No

70

(80)

260

(80)

16

(84)

Unknown

*

*

49

(15)

*

*

Yes

*

*

*

*

*

*

No

74

(84)

274

(85)

16

(84)

Unknown

*

*

*

*

*

*

* Counts of five or fewer have been suppressed to protect patient confidentiality. Additional cells may be suppressed to prevent derivation of these counts by subtraction.

15 n LIFELINES for HEALTH n Spring/Summer 2022

HermanskyPlatelet function Pudlak disorder, hereditary syndrome (nonspecific)

Platelet Release defect

#

(%)

#

(%)

#

(%)

#

(%)

#

(%)

132

(100)

3946

(100)

54

(100)

3622

(100)

982

(100)

*

*

51

(1)

*

*

43

(1)

39

(4)

35

(27)

717

(18)

6

(11)

726

(20)

124

(13)

40

(30)

1398

(35)

27

(50)

1511

(42)

205

(21)

32

(24)

1052

(27)

10

(19)

930

(26)

257

(26)

14

(11)

441

(11)

*

*

293

(8)

201

(20)

*

*

287

(7)

*

*

119

(3)

156

(16)

60

(45)

1464

(37)

23

(43)

1198

(33)

473

(48)

72

(55)

2482

(63)

31

(57)

2424

(67)

509

(52)

75

(57)

622

(16)

*

*

301

(8)

214

(22)

49

(37)

3213

(81)

39

(72)

3279

(91)

715

(73)

8

(6)

111

(3)

*

*

42

(1)

53

(5)

*

*

22

(1)

*

*

*

*

10

(1)

7

(5)

147

(4)

*

*

*

*

28

(3)

6

(5)

381

(10)

*

*

411

(11)

126

(13)

*

*

12

(0)

*

*

*

*

*

*

83

(63)

3140

(80)

49

(91)

3003

(83)

698

(71)

*

*

46

(1)

*

*

92

(3)

*

*

31

(23)

198

(5)

*

*

65

(2)

109

(11)

130

(98)

3878

(98)

52

(96)

3569

(99)

950

(97)

*

*

27

(1)

*

*

30

(1)

25

(3)

*

*

41

(1)

*

*

23

(1)

7

(1)

*

*

18

(0)

*

*

32

(1)

21

(2)

111

(84)

2872

(73)

29

(54)

2550

(70)

669

(68)

*

*

1056

(27)

*

*

1040

(29)

292

(30)

*

*

*

*

*

*

11

(0)

11

(1)

109

(83)

2884

(73)

29

(54)

2565

(71)

678

(69)

*

*

*

*

*

*

1046

(29)

293

(30)

Platelet storage pool disease

Thrombocytopenia, hereditary † The HTC Population Profile contains 47 transsexual individuals. For confidentiality purposes, the number of transsexual patients is too small to report by year or other characteristics.

Transsexual patients have been included in the counts of male and female according to the sex assigned to them at birth since hemophilia and von Willebrand disease, the most common congenital bleeding disorders, affect the sexes differently. On August 10, 2020, the responses for this question changed such that “Male to Female” (i.e., transsexual) and “Female to Male” were removed and “Intersex” was added. The number of intersex patients is too small to report by year or other characteristics; therefore, these counts have been excluded to protect patient confidentiality.

Web Source: CDC (Centers for Disease Control and Prevention) https://www.cdc.gov/ncbddd/hemophilia/communitycounts/datareports/2022-03/table-5-platelet-disorders.html

FEATURE

CHES cares...

Comprehensive Health Education Services In preparation for this (CHES) since 2012, has provided programming article, we reached out to and support services to members of the ultraour families to ask them rare coagulation disorder community when it what they felt was the hosted the Over the last 10 years, we have listened to, very first learned from, and supported our program F7 Retreat participants who have become like family to us. supported by an educational grant from Novo Nordisk in most important topics to Highland, NY for families affected by FVII be answered by healthcare deficiency. In 2016 and 2019, CHES was honored professionals; information to provide the Glanzmann’s Thrombasthenia they wished to share with Symposia, supported by an educational grant others new to an ultra-rare from Novo Nordisk. These two programs diagnosis, what they wished combined in 2020 to form One Drop: THE Rare they had known, and what Bleeding Disorder Consortium. they still would like to learn.

A very special thank you to our program participants for their insightful questions, years of trust, and support! It is because of YOU that programs such as One Drop are so successful.

And of course, they would not be possible without the generous support of Novo Nordisk.

17 n LIFELINES for HEALTH n Spring/Summer 2022

rare Q&A

with Dr. Chitlur

Meera Chitlur, MD

Barnhart-Lusher Hemostasis Research Endowed Chair, Wayne State University Professor of Pediatrics, Central Michigan University Director, Hemophilia Treatment Center & Hemostasis Program & Special Coag. Lab Division of Hematology/Oncology, Children's Hospital Of Michigan

Q: What symptoms would lead you to suspect a rare coagulation disorder (different than F8, F9, and vWD)?

Dr. Chitlur: Petechiae or bruises from blood draws, or blood pressure checks. The symptoms are mostly similar, but not finding anything when you check for the common disorders should be the clue in itself.

Q: What lab testing should be considered if an ultra-rare bleeding disorder is suspected? How should patients advocate for testing beyond the typical F8, F9, and vWD panels?

Looking for other factor deficiencies (check other factor activities) and platelet dysfunction should be the norm when patients have symptoms.

Q: Do factor levels increase as people get older?

No significant differences occur as you get older.

Q: What advice would you give a newly diagnosed patient with an ultra-rare bleeding disorder?

1.

2.

3.

4.

5.

Find a HTC with people who know about your disorder so that they can advocate for you.

Don’t hesitate to ask questions.

Have a plan for emergencies.

Have a plan for surgeries/dental work.

Wear your medical alert, it can save your life!

Q: What products are available to treat those with ultra-rare factor and platelet disorders?

Replacement of the missing protein may be required for major bleeds or prevention of bleeding.

• FI def: Cryoprecipitate or Riastap® • FII: Prothrombin Complex Concentrates, FFP • FV def: FFP • FVII def: Novoseven® and Sevenfact®, FFP • FX def: Coagadex®, FFP • FXI def: FFP • FXIII def: Corifact®, Tretten®, Cryoprecipitate, FFP • Platelet disorders: Platelet transfusion, Novoseven if platelet antibodies are present Minor bleeds and mucocutaneous bleeding (epistaxis and gum bleeding) may be treated with antifibrinolytics in many cases.

Topical agents may also be considered.

Q: What considerations should someone with mild factor deficiency take while traveling or in choosing activities such as sports and recreation?

Choose wisely! Look at options that are associated with a low risk for head trauma or any major trauma. Individual activities such as swimming, golf, tennis, track may be better options for you. Even amongst these, swimming and golf may be the least likely to be associated with trauma and therefore the safest.

1.

Also, must consider making sure you are ready for the activity. Make sure you stretch, warm up and help your muscles adjust to the activity rather than just jump into it. This will prevent muscle sprains and trauma related to poor conditioning.

2.

Wear protective gear where necessary- always. Do not allow your friends to dictate what and how you do things.

FEATURE

Reproductive Health and Women with Rare Coagulation Disorders Treating Menorrhagia We know so many women with ultra-rare bleeding disorders who have had their periods permanently suppressed, or an early hysterectomy, due to heavy menstrual bleeding.

Q: What are your thoughts on managing menorrhagia throughout various stages of the menstrual cycle?

There is little guidance - mostly case reports. Given this fact these are my main thoughts: 1.

Finding a GYN provider who is willing to work with you is paramount.

2.

This person needs to understand that causes of menorrhagia are multifaceted and thus the approach needs to be multipronged. This person needs to be open to talking to hematology on a regular basis as well. The combination heme/GYN clinics have been so important in addressing the needs of women with rare disorders.

3.

Often what works for some time stops working and needs to be changed and women need to be open to trying different combinations of therapy. It can be a frustrating situation as things change and women often feel alone.

Skye Peltier, MPH, PA-C

It is important to remember that the progesterone only IUDs are excellent at controlling heavy bleeding, and very safe in all age women.

They do not increase the risk of blood clots.

There are a wealth of other estrogen-free options that are fantastic at managing heavy menses – such as the hormonal IUD.

Ian Bishop, MD

19 n LIFELINES for HEALTH n Spring/Summer 2022

Judy Simms-Cendan, MD

Prevalence of Heavy Menstrual Bleeding Disorder

Prevalence of Heavy Menstrual Bleeding

von Willebrand Disease (Type I)

79-93%

Carriers of Hemophilia

57%

Factor XI (FXI) deficiency

59%

Factor VII (FVII) deficiency

47%

Glanzmann's thrombasthenia

13-98%

George JN et al. Blood. 1990;75(7):1383-1395. Kadir RA et al. Haemophilia. 1999;5(1):4048. Kouides PA et al. Haemophilia. 2000;6(6):643-648 Napolitano M et al. Haemophilia. 2016;22(5):752-759 Peyvandi F et al. J Thromb Haemost. 2011;9(suppl 1):236-245.

Ragni MV et al. Haemophilia. 1999;5(5):313-317. Toogeh G et al. Am J Hematol.

2004;77(2):198-199.

Frequency of Bleeding Symptoms in Women with Bleeding Disorders

Frequency of Bleeding Symptoms in Women with BD’s

Required provider intervention

Deficiency

Reported symptom

More than 1 nosebleed/yr lasting 10 min or longer

154 (48.4%)

75 (48.7%)

Oral mucosal bleeding lasting 10 min or longer

93 (29.4%)

43 (46.2%)

Bleeding during/after dental procedures of concern to healthcare provider

111 (35.1%)

73 (65.8%)

Bleeding from minor cuts lasting 5 min or longer

153 (48%)

23 (15%)

Bruises larger than a quarter size occurring at least once a month w/o trauma

174 (54.5%)

13 (7.5%)

Bleeding after surgery of concern to healthcare provider

119 (37.3%)

102 (85.7%)

Menstrual bleeding that required protection change at least every 2 hrs on heaviest day*

165 (76%)

95 (57.6%)

Bleeding during pregnancy and/or postpartum of concern to healthcare provider**

63 (52.9%)

51 (81%)

Joint bleeding

51 (16%)

37 (72.5%)

Muscle bleeding

28 (8.8%)

13 (46.4%)

Central Nervous System bleeding

9 (2.8%)

7 (77.8%)

37 (11.6%)

23 (62.6%)

Gastrointestinal bleeding *Restricted 217 menstruating females **Restricted to 119 females who had pregnancy Byams VR et al. Haemophilia 2011; 17(suppl 1): 6-13.

FEATURE

Reproductive Health and Women with Rare Coagulation Disorders Treating Menorrhagia (continued) Q: What is your opinion on using the birth control pill after the age of 35? (Some gynecologists recommend going off oral contraceptives at that age.)

•

If you recommend going off them, what do you recommend in their place?

•

If you recommend staying on them, at what age do you recommend women stop taking them?

Judy Simms-Cendan, MD

Ian Bishop, MD

There are NO contraindications to using combined oral contraceptives with estrogen after the age of 35, as long as the woman does not smoke, or have other reasons to increase her risk of venous thromboembolism (blood clots), such as obesity, hypertension or diabetes. For women with bleeding disorders, this risk is very low.

Age itself should not be a contraindication to combined hormonal contraception (pill, patch, ring). These methods can be continued until the age of menopause in healthy, non-smoking, normal weight women – and may be especially helpful for women using combined hormonal contraception to manage heavy or irregular menses.

However, there may be other comorbidities (such as smoking, hypertension, etc) that might make us think about discontinuing earlier. To mitigate the risk of thrombosis for women over age 35 who desire combined hormonal contraception, I usually put them on a pill that has 20mcg estrogen – this would be considered a “low dose” pill.

In general, we know the risk of venous thromboembolism is proportional to the estrogen in the birth control pills. Higher estrogen leads to higher risk. After age 35 we try to use less estrogen because the older we get, the more likely we are to have atherosclerosis in our blood vessels which increases the risk of blood clots. In general, the pills we choose have 10-20 micrograms of ethinyl estradiol, the lowest dose pills.

21 n LIFELINES for HEALTH n Spring/Summer 2022

Pregnancy Q: Do you have any thoughts on successful pregnancies for F7 and GT patients?

Any insight on prophy during the pre-implantation period to prevent miscarriage? (We know of an instance when this was successful for a woman with FVII deficiency.)

Skye Peltier, MPH, PA-C I am most familiar with the F7 literature and there is more information about delivery than preimplantation. I have not seen preventative therapy being used here unless the woman is having an implantation procedure.

The link and QR code below provides the article Skye refers to for delivery planning in F7 patients. https://pubmed.ncbi.nlm.nih.gov/23607277/

FEATURE

& Research

Future Treatments FVII Deficiency

During the F7 Retreats from 2017-2019, Comprehensive Health Education Services coordinated with Dr. Diane Nugent, Chief Hematologist at Children’s Hospital of Orange County, CA, founder of the Center for Comprehensive Care and Diagnosis of Inherited Blood Disorders (CIBD) and the Hematology Advanced Diagnostics Laboratory (HADL) that provides access to specialty laboratory testing for the diagnosis of inherited blood disorders.

Due to the coordinated efforts between Dr. Nugent, the attendees at these family retreats and CHES, at our last live event, she reported the following information:

1)

Of note:

Among the 154 individuals sequenced... variants were identified in 55 patients and 67 relatives

*Only 3 patients had no Factor VII variants identified

2)

Among all 154 individuals, 48 different variants were detected in the Factor VII gene.

NOT

3)

Of those variants, 15 were listed with the NCBI databank or FVII Registry.

(Family studies proved highly informative in mapping the pathologic lesions to the functional regions of the FVII molecule.)

4)

The variant types included:

1 start loss 4 stop gains

24 missense

5 synonymous

9 intronic in splice site regions

Diane Nugent, MD

5 deletions including a frameshift

*During the 2-day FVII Retreat, consent forms, bleeding questionnaires, and blood samples were obtained from those in attendance. *Factor levels were obtained through each patient's primary physician at the time of diagnosis, and whole gene sequencing was performed at HADL, using their validated Next Generation Sequencing (NGS) clotting protein panel which contains FVII along with 21 additional clotting genes.

5) Once again, there was discordance between the bleeding score and FVII activity when the FVII level was >10-20%. However, for those patients with FVII levels, <5% of the bleeding scores were usually elevated, especially in women post menarche.

A total of 154 individuals

6) were evaluated comprising of:

23 n LIFELINES for HEALTH n Spring/Summer 2022

58 patients

48 parents

48 families with index patients

4 grandparents

41 related siblings or offspring

Poster presented at World Federation of Hemophilia in 2018 Glasgow, Scotland on F7 data.

FEATURE

& Research

Future Treatments

(continued)

Glanzmann’s Thrombasthenia Bone Marrow Transplant Q: What are your thoughts on Bone Marrow Transplant for Glanzmann’s Thrombasthenia?

Meera Chitlur, MD This is the only curative option for this disease. We have now transplanted 2 sibs with GT and it is truly life changing for the patient and the family! I don’t know the success rate as such because the number of reported transplants is still in the double digits and potentially <50. I would recommend it especially if there is a sibling donor.

David Wilcox, PhD Medical College of Wisconsin, Children’s Research Institute, Children’s Wisconsin; Versiti Blood Research Institute, Milwaukee, WI Dr. David Wilcox and his team have tirelessly researched platelets for the past three decades to improve treatment for inherited bleeding disorders.

These efforts have led to significant advances in our current understanding of platelets, and of specific proteins and their role in addressing several genetic disorders. Additionally, Dr. Wilcox has been investigating the potential for utilizing Human Stem Cells (HSC) as a target for gene therapy to synthesize therapeutic proteins within megakaryocytes, to correct disorders utilizing unique properties of platelets. As recipient of numerous grants and awards, both public and private, these efforts have led to three platforms for megakaryocyte-specific gene therapy, addressing diseases including Glanzmann’s Thrombasthenia, and Hemophilia A, as well as several types of cancer.

In May of 2022, he spoke at the American Society of Gene and Cell Therapy annual conference in Washington DC regarding this research with the hope of advancing to the first in human clinical gene therapy trial.

Q: What do you see on the treatment horizon for ultra-rare factor and platelet disorders?

Meera Chitlur, MD Gene therapy is the only curative option but may not be in the foreseeable future as this is a challenging arena. We are anticipating treatment options like Fitusiran™ which alter the pro-and anticoagulant balance to make more of a presence.

25 n LIFELINES for HEALTH n Spring/Summer 2022

ATHN 10

What is it?

A Rare Coagulation Disorders Project leveraging the ATHNdataset to document the state of rare coagulation disorders in the United States Principal Investigators:

Diane Nugent, MD • •

Executive Officer, Board President/Founder, President/Medical Director Center for Comprehensive Care and Diagnosis of Inherited Blood Disorders

Amy Shapiro, MD • •

Chief Executive Officer, Co-Medical Director Indiana Hemophilia & Thrombosis Center

A merican T hrombosis and H emostasis N etwork ATHN sponsors research through partnerships with 135+ federally funded hemophilia treatment centers across the United States. ATHN 10’s goals are to: • •

Enhance Rare Coagulation Disorders for phenotypic/genotypic data within the ATHNdataset Provide free genetic testing for those with Rare Coagulation Disorders and more

Requirements: • Established diagnosis of a Rare Coagulation Disorder • Currently receiving care at an ATHNaffiliated Hemophilia Treatment Center • Must opt-in to the ATHNdataset

The initial stages of this project will collect data for those affected by the following Rare Coagulation Disorders: • Bernard Soulier syndrome • Glanzmann’s thrombasthenia • Factor I (Afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia) • FVIId (Factor 7 deficiency) • FXIIId (Factor 13 deficiency)

Those that have participated in Dr. Nugent’s studies via the 2017-2019 F7 Retreats or the 2019 Glanzmann’s Thrombasthenia Symposia offered by Comprehensive Health Education Services will NOT automatically be enrolled in the ATHN 10 study. You MUST contact your HTC to be included in ATHN 10.

For a complete overview on ATHN 10: https://athn.org/what-we-do/national-projects/athn10.html or email ATHN at support@athn.org.

FEATURE

Do

YOU

Know

how

That

makes

Me

FEEL?

27 n LIFELINES for HEALTH n Spring/Summer 2022

by Dr. Gary McClain, PhD

Recognizing and Responding to Unconscious Bias We are hearing a lot about unconscious bias these days.

Along with many examples of what unconscious bias looks like, how it affects the ways in which we communicate, how it harms those who are the victims of unconscious bias. We hear about it in the media, of course. We see examples of it in our own lives, at school, at work, in our communities. And in the offices of healthcare providers.

What about you? Have you had unconscious bias directed toward you or your child? Or have you unintentionally directed it toward someone else?

So Just What is Unconscious Bias?

Basically, unconscious bias is made up of thoughts or feelings that you may not be aware of, but yet have an influence on judgments you make. Unconscious biases come from your preferences for or against something, and these preferences may lead you to have a positive or a negative bias.

For example, you may find yourself assuming that people from certain cities are naturally rude.

You meet someone from that city, and you find yourself expecting them to behave in a rude manner, you haven’t actually taken the time to get to know them yet, you just “naturally” expect them to be rude.

FAMILY MATTERS

Or consider this example: You are walking down the sidewalk at dusk and you see someone coming toward you, mumbling, and yelling with bags in their hands, asking you for money. Most likely, you don’t take the time to think about what they are doing and how they are feeling. Instead, you would pop into a store or a restaurant that is still open, or cross to the other side of the street.

We are constantly bombarded with information. Unconscious bias helps us to organize information and make shortcut decisions.

As humans, we are hardwired for unconscious bias, for better or worse.

As humans, we are a collection of life experiences. These experiences, including the families and communities we grew up in, have a major impact on the unconscious bias we have incorporated.

Is unconscious bias a good thing or a bad thing? First it is human. It is automatic. That part of our brain that makes quick judgements in a potentially dangerous situation can also, unfortunately, cause us to make judgments that are unfair and potentially damaging to another person or, on the other hand, to have those unfair judgments directed toward us.

29 n LIFELINES for HEALTH n Spring/Summer 2022

Unconscious Bias at Your Healthcare Provider’s Office First, allow me to emphasize that my intention in the words that follow is not to accuse your healthcare provider of being biased toward you. As I hope I made clear in the previous paragraphs, unconscious bias is “hardwired” and often unintentional.

However, that doesn’t mean that even unintended unconscious bias is not harmful when it is directed toward you. I will give you some ideas about how to advocate for yourself when you are in this situation.

But first, here are some of the forms of unconscious bias:

Microaggression Let’s start with an example. A mother who is Latinx has a conversation with her physician’s nurse about her 12-year-old daughter. Her daughter is refusing to eat dinner with the family and instead comes into the kitchen later in the evening and picks from the refrigerator.

The nurse informs her that “Kids at that age are very weight conscious. I am sure you’re a great cook. But maybe she is tired of all the fried food and rice and beans.”

Do you see what just happened here? The nurse made a comment that reflected an unconscious bias, based on her own limited exposure to members of the Latinx community and most likely her own experiences and assumptions, starting in childhood.

Her comment, however unintended, was experienced as a microaggression. This mother may have felt disrespected and devalued. If not embarrassed and ashamed, having been made to feel by someone she is seeking advice from that she is giving her children unhealthy food without having had the benefit of being asked what she serves her family.

Furthermore, by making this assumption, the healthcare provider has potentially stopped a conversation that might have led to an important discussion about what kind of help this 12-year-old needs.

Microinsult Consider this: A wife accompanies her husband to an appointment with his physician. Her husband has been experiencing unrelenting pain. After exploring her husband’s symptoms, the physician announces: “Well, when a man finally complains about pain, I know the pain must be real.”

The woman in this situation most likely experienced this as a microinsult. The physician, by saying that men only complain when they have real pain, is also implying that women whine and complain about pain that isn’t worth taking the physician’s time. By encouraging her husband to talk about his pain, he insulted his wife.

Hopefully, this won’t discourage her from reaching out for help the next time she experiences pain. But it could.

FAMILY MATTERS

devastated. She began bleeding elsewhere, especially in her kidneys, gastrointestinal system, and some joints. Her muscles continued to be swollen and sore. She was told she had fibromyalgia, was a klutz, and worst of all, one physician even accused her of “liking the attention” she received from going in and out of the hospital.

Microinvalidation is communicating in a way that excludes or discounts another person’s thoughts, feelings, or experiences. For example, implying that they are being dramatic, making symptoms up, or attempting to gain attention. To be honest, I hear versions of this story frequently, from adult patients and from parents of children with chronic conditions like bleeding disorders.

Microinvalidation Microinvalidation is a topic that I frequently discuss with my clients. Here are a couple of examples for you to consider: Example 1: A parent meets with her daughter’s teacher to talk about the way in which the teacher treated her. Her daughter has a chronic condition. She had missed two days of school and was late with an assignment as a result of having struggled to complete it as soon as she could. The teacher had scolded her in front of other students for not completing it on time and emailing it to her.

When her mother tried to explain to the teacher that she had completed it as soon as she could, the teacher interrupted her. “Research has shown that kids with chronic conditions learn to play the victim and manipulate adults.”

The physician may feel they are being straightforward, even showing “tough love,” but they are doing emotional damage to their patient, who is left feeling that she is not being heard by the individuals who are responsible for her health care.

Leaving her at risk of not receiving the health care she needs.

And revisiting the first example, the teacher may think she is using a teachable moment to educate a parent, but the parent is being made to feel like she is all too often made to feel when attempting to advocate for her daughter - like her child is being viewed as an annoyance, as well as judged.

Microinvalidation impacts the emotional and potentially the physical wellness of the person to whom this is being directed. The result of microinvalidation? Feeling misunderstood. Disrespected. In a word: Invalidated.

Microinvalidation is communicating in a way that excludes or discounts another person’s thoughts, feelings, or experiences.

Example 2: A patient reports, after 4 major abdominal surgeries in a 5-year span to remove large, blood-filled endometriomas and 5 pregnancies that never came to term, she had a total hysterectomy - removing all female reproductive organs. She was 29 years old and

31 n LIFELINES for HEALTH n Spring/Summer 2022

So What Do I Do When I am Experiencing Unconscious Bias Again, unconscious bias is often unintended. But let’s face it, unconscious bias can also be expressed in a very direct and intentional way. We see examples of this in the media. You may experience this in your own life.

Here are some ideas to help you to cope, and advocate for yourself, when you experience unconscious bias: First, feelings are not always reliable. The experience of unconscious bias can bring up really strong feelings – anger, sadness, frustration – depending on the situation and our own past experiences. Keep in mind that the first rush of emotions can lead to actions that you may later regret. So, take a deep breath. Evaluate the situation. Ask yourself if your emotions are in proportion to what just occurred.

Consider intentionality. Is it clear that the other person is intending to cause emotional harm to you or your child? Are they demonstrating their own ignorance? Or are they just in a hurry or stressed and not thinking about their words? I am not saying you should make excuses for other people and let them mistreat you. But I am saying that at times giving someone the benefit of a doubt can keep a situation from getting out of control.

If you see something, say something.

Identify the unconscious bias. I live in New York City, and in our subway system, we have signs that say, “If you see something, say something.” By identifying situations where we feel unconscious bias, we can help educate the other person and potentially help protect other people from having the same experience. This begins with simply letting them know how you feel and why.

FAMILY MATTERS

Here are a couple of examples to identify unconscious bias:

“I don’t want to sound like I am attacking you or that I don’t respect you. But when you said __________, I felt marginalized/ overlooked/disrespected/invalidated.

I don’t think you meant it that way, but I have to let you know how I feel.”

The point here is to clearly identify what was said that you experienced as unconscious bias and how you were emotionally impacted. Don’t accuse. Use I-statements.

Focus on what was said and your reaction. Be a “patient” educator.

Keep your expectations realistic. I constantly remind myself, and my clients, that we can’t control how other people think, feel, and behave. On one hand, pointing out an unconscious bias may be an eye-opening teachable moment that results in an apology and needed change on their part. On the other hand, the other person may not see a problem on their side and toss it back on you (that’s called gaslighting). Be aware of your options in this situation, especially if this is a professional working with you or your child. If you see something, say something. Know when it’s also time to do something.

33 n LIFELINES for HEALTH n Spring/Summer 2022

“I am not sure what your experience has been with members of my community, but we actually don’t ________________. We _______________.”

“I wish other people understood what it is like to live with this condition. When you said this about my child, I felt like _____________________.

How Do I Help My Child?

Here is one last example of unconscious bias. It is based on many conversations I have had with parents over the years: A high school student living with a chronic condition reports to his father that his gym teacher told him to sit on the bench and observe other students doing rigorous calisthenics. The teacher told him, “I don’t know if you should be doing this and the school doesn’t need any liability issues.”

The young man felt deeply humiliated, and a few of the other students made fun of him later. His father is outraged; his son begs him not to make an issue of it for fear of retaliation.

If you are a parent, you may have similar stories. Here are a few ideas for parents: Help your children to develop a sense of their own self-worth. Set an example of open-mindedness and compassion. Insist that healthcare providers and education professionals, and anyone else who has contact with your children, treat them with respect. Identify unconscious bias when you see it. Advocate for your children.

Create a safe space for emotions. Make your home a place where it is okay to talk about feelings, “good” feelings and “bad” feelings. Set an example by talking about your own feelings. Ask questions: What’s going on with you today? How can I help? How can I help you feel safe?

Get involved in advocacy organizations. From a healthcare perspective, join an organization that supports families living with a chronic condition. Fortunately, the bleeding disorder community has amazing local and national advocacy resources. Get your children involved in meeting other children who share their condition and get to know other parents. But also get involved in your own communities, help your children be aware of other forms of unconscious bias, and be a family that embraces diversity in all forms.

Let’s Watch Out for Each Other Look for signs of stress in your family members, your friends, your co-workers, and your neighbors. Keep in mind that stress can be the result of being exposed to unconscious bias. Reaching out is as simple as asking “How can I help?’ Helping begins with just providing a listening ear and listening with an open and non-judgmental mind.

By offering another person the opportunity to talk about what they’re experiencing, they can better frame out the situation in their own minds in the process of helping us to understand.

And if you are experiencing unconscious bias, you might also want to consider speaking with a mental health professional. We can help you to gain perspective, to validate your emotional reactions, to identify your strengths, and share some coping techniques. We’re pretty good at being objective listeners. Don’t go through this alone!

As we’ve been saying a lot during the past two years, we’re all in this together.

Gary McClain, PhD is a therapist, patient advocate, and educator, specializing in helping clients deal with the emotional impact of chronic and life-threatening health conditions, as well as their families and professional caregivers. He works with them to understand and cope with their emotions, to learn about their lifestyle and treatment options, to maintain compliance with medical regimens, to communicate effectively with each other and healthcare professionals, and to listen to their own inner voice as they make decisions about the future. His website is JustGotDiagnosed.com.

FAMILY MATTERS

Product Updates a t

a

by Janet Brewer, M.Ed

G l a n c e

Hemophilia A News Sanofi and Sobi announced on 3/9/22 that their Phase 3 XTEND-1 BIVV001, Efanesoctocog alfa, a once-weekly treatment for Hemophilia A met its primary endpoints to provide statistically significant and meaningful reduction in annualized bleed rates compared to standard FVIII prophylactic treatment.

Efanesoctocog alfa is designed to provide near normal factor activity levels for the majority of the week. https://www.sanofi.com/en/media-room/press-releas es/2022/2022-03-09-06-00-00-2399557

Hemophilia Gene Therapy News BioMarin announced positive results on 2/4/22 at the 15th annual Virtual Congress of the European Association for Haemophilia and Allies Disorders (EAHAD) from their 2-year analysis for their Phase 3 GENEr8-1 Roctavian (valoctocogene roxaparvovec) therapy.

They reported that nearly all participants did not require standard preventive therapies, and that 80% of the participants were bleed free at the end of the 2-year period. https://www.prnewswire.com/news-releases/biomarin-announcesoral-presentation-of-2-year-analysis-of-largest-phase-3-genetherapy-study-in-adults-with-severe-hemophilia-a-at-15th-annual-congress-of-european-association-for-haemophilia-and-allieddisorders-eahad-2-4-febr-301475471.html

35 n LIFELINES for HEALTH n Spring/Summer 2022

Hemophilia B Gene Therapy News CSL Behring announced on 2/4/22 at the 15th annual Virtual Congress of the European Association for Haemophilia and Allies Disorders (EAHAD) from their Phase 3 HOPE-B study on EtranaDez (etranacogene dezaparvovec) formerly known as AMT061, demonstrates durable and sustained therapeutic effects.

Participants yielded stable FIX activity 18-months post treatment with 98% of study participants able to discontinue use of prophylaxis. https://www.prnewswire.com/news-releases/finalanalysis-of-pivotal-hope-b-study-demonstrates-durableand-sustained-therapeutic-effect-of-etranacogenedezaparvovec-gene-therapy-in-hemophilia-b--datapresented-at-eahad-2022-301475671.html

VonWillebrand News The FDA granted approval on 1/31/22 for the first and only routine prophylactic treatment with VONVENDI for adult patients (18 and over) living with Severe Type 3 vonWillebrand Disease (vWD.) VONVENDI is approved for use for on-demand and perioperative bleed management for adults with vWD.

VonWillebrand Disease is considered to be the most common bleeding disorder with approximately 3 million (1 in every 100) individuals affected in the United States. https://www.businesswire.com/news/home/20220131005214/en/ FDA-Approves-Prophylactic-Treatment-with-VONVENDI®-vonWillebrand-Factor-Recombinant-for-Adult-Patients-Living-withSevere-Type-3-von-Willebrand-Disease-VWD

BLOODLINES

Fueling for the S

37 n LIFELINES for HEALTH n Spring/Summer 2022

Summer

by: Megan Allen, RD, LD, CDCES

T

he summer months bring about many enjoyable activities that get us outside and away from home more often. Backyard barbecues with friends, family vacations, and activities with kids create fun memories that last a lifetime. However, if your goal this summer is to fuel your body to keep up with all the activities of the season, you may want to still prioritize cooking meals at home. Fueling your body for a day of fun activities doesn’t have to be complicated if you have a plan.

This will look different for every individual or family, but once you learn what works best for you, planning ahead for healthy meals becomes a simple process that can be easily modified depending on your plans for the week ahead.

MIND BODY CONNECTION

Take Inventory Take a look at your pantry, refrigerator, and freezer for anything that needs to be used in the next few days. Start to build meals around these items first. For example, peppers and onions that are starting to look a little wrinkled, can be made into stir fry, fajitas, or taco soup!

Be sure to look in your freezer for frozen leftovers, vegetables, or meat that can be used first to save money during your grocery trip.

If you’re new to meal planning, start by planning ahead for two meals and two or three healthy snacks for the week. As you start to learn how meal planning fits into your schedule, you can adjust things as needed. I like to build my grocery list on my phone using a standard notes app. This allows me to quickly add items as they pop into my brain or if I run out of something. If you utilize a grocery pickup option, you can use the app for the grocery you plan to purchase from instead. Just add items to your cart as you go, most apps will save your active cart until you submit the order.

Meal options

Lasagna Tacos Chicken stir f ry

39 n LIFELINES for HEALTH n Spring/Summer 2022

Know your “Pain Points” When life gets busy, we each have areas of our nutrition that fall to the wayside first. Spend the most time planning and prepping for the meals, snacks, and beverages that you struggle with the most. Ideally, most people should aim to have a meal or snack at least every four to five hours to fuel your body with enough energy for the day.

Drink mostly plain water and if desired, sugar free or unsweetened beverages to help stay hydrated.

Be Flexible This is where your personal schedule comes into play. If you want to prepare all your meals at the beginning of the week, then set aside the time to do this. Another strategy is to keep a list of meals that you have planned for the week and go to that list when you’re ready to start cooking. This gives you the flexibility to change your mind if one meal sounds better than another at that particular moment. You can also send this list to family members or place it on the counter or fridge in the morning and the family can vote on what sounds best that day! With any strategy, try to prepare fruits and vegetables at the beginning of the week for snacks.

When fruits and vegetables are ready to eat you will be much more likely to eat them. The goal is to make healthy options the easy and convenient choice when you’re hungry.

MIND BODY CONNECTION

Take Shortcuts Keep in mind, you don’t have to do all the work yourself!

Feel free to use frozen, and canned fruits and vegetables to save time. You can even buy frozen whole grains such as brown rice and quinoa that can save an extra 30 minutes of cooking time. To save time at the grocery store, consider using pick-up and delivery services. Not only will you get an hour or more of your day back, but it also helps ensure you’re only purchasing what you actually need to save money and make healthier choices.

41 n LIFELINES for HEALTH n Spring/Summer 2022

If you have other people living in your household, they should have an opinion too. Especially kids! Start by giving your kids a choice of two or three fruits and vegetables to choose from. They will be more likely to eat them if they have a say in what fruits and vegetables are served. If your kids are old enough to help you prepare the fruits and vegetables, this is even better. Every small task can help get kids excited about eating healthier such as washing fruits and vegetables, choosing their favorite from the freezer, or stirring together a colorful fruit salad!

Healthy On The Go If this summer has you and your family traveling or just wanting to spend more time outdoors and out of the hot kitchen, it can be helpful to plan ahead for easy and healthy meals to go. To minimize restaurant meals while traveling, consider packing a “snack meal” in your cooler with a variety of healthy foods that don’t require utensils such as fresh fruit, raw vegetables with single serving dips or dressing packets, hard boiled eggs, cheeses, nuts, and whole grain crackers. Grilling can be a great way to stay outdoors with family and friends while getting a quick healthy meal on the table. Consider grilling your vegetables too so you can have the whole meal cooked on the grill. And lastly, don’t forget to hydrate with water and other unsweetened and sugar free beverages. Use sparkling water, sugar free water enhancers, and fresh fruit and herbs to add flavor to your water without added sugars.

There you have it! My ultimate guide to get you started with meal planning during busy seasons of life. Keep in mind your meal planning routine may change often depending on your family’s schedule. You don’t have to keep the same routine every day of the year. Remember, while it can be frustrating in the beginning, it is well worth your efforts. Meal planning is an investment in your health and form of self-care.

Megan Allen is a Registered Dietitian and Diabetes Care and Education Specialist who works one-onone with clients to help them set personalized nutrition goals to improve their health. She became a Dietitian because she believes food is a source of nourishment for disease prevention and treatment, but also enjoyment for your life as well. Food should make you feel happy and energetic, never guilty or stressed. When working with clients one-on-one she helps them set enjoyable, behavior-based goals to improve their health beyond hitting a certain target on the scale.

MIND BODY CONNECTION

504 orMaking IEPSense of It - All! T

by Janet Brewer, M.Ed

here are two federally mandated plans that all school age students are entitled to. States also are mandated to provide special education services or related services and accommodations to children with a diagnosed disability.

IDEA-Individuals with Disabilities Education Act1974 Amended 2004 IDEA requires states to provide a “free appropriate public education” to children with disabilities so they can be educated to the fullest extent possible with other children. If qualified, children are provided with special education AND related services under an Individualized Education Plan.

Disabilities Include: •

Physical, sensory, mental or emotional

•

Orthopedic Impairment

• • • • • • • •

Emotional Disturbance

Section 504 of the Rehabilitation Act of 1973

This Act’s focus is on non-discrimination. It maintains “no otherwise qualified individual with a disability will be excluded from participation in, be denied the benefits of, or be subjected to discrimination under any program or activity receiving Federal financial assistance”.

American with Disabilities Act 1990

ADA is almost like an extension of Section 504. It provides for the elimination of barriers related to accessibility for the disabled to buildings, transportation, and communication.

Traumatic Brain Injury

Both 504 and ADA provide related services and accommodations to qualified individuals with a disability through a 504 plan. Its intent is to provide access or remove barriers to participation. It provides students with the same rights and services as their “NON Disabled Peers”.

Intellectual Disability

How a Bleeding Disorder Fits In:

Hearing-Vision Impairment Autism

Other Health Impairment Specific Learning Disability Multiple Disabilities

IDEA-Other Health Impairment

IDEA defines Other Health Impairments as due to chronic or acute health problems such as asthma, attention deficit disorder, crohn’s or hemophilia and adversely affects a child’s educational performance.

ADA/504-Medically Related Disability

ADA/504 defines a Medically Related Disability as a physical or mental impairment that substantially limits one or more major life activities or those basic activities that the average person in the general population can perform with little or no difficulty.

The individual has a record of such impairment and is regarded as having such impairment.

If your child is diagnosed with any of the above disabilities AND they require specialized instruction-they qualify for an INDIVIDUALIZED EDUCATION PLAN.

Specialized instruction is defined as adapted instruction designed to meet the unique need of the child with a disability.

The content, methodology or delivery of instruction is changed to ensure the child’s access to the general curriculum.

36 n LIFELINES for HEALTH n Spring/Summer Summer 2015 2022 43

To find more information on 504s, IEPs, accommodations and working with your child’s school, you may access more of Janet’s work through HFA’s School Toolkit at:

http://www.hemophiliafed.org/resource-library/settingthe-stage-for-school-success-august-2011-webinar More on page 46 g

www.wilateusa.com

Contact your Octapharma Representative:

Bri Vieke PHONE | 551.502.7007 EMAIL | briana.vieke@octapharma.com

Resources for patients and caregivers, including free trial and co-pay assistance, educational materials, and community connection.

Join the program at www.factormyway.com or call 1-855-498-4260. ©2021. Octapharma USA Inc. All rights reserved.

Date of preparation: 4/2021. WIL-0319-CAD

www.NUWIQUSA.com

Contact your Octapharma Representative:

Harp Maan PHONE | 206.484.4746 EMAIL | harp.maan@octapharma.com

Resources for patients and caregivers, including free trial and co-pay assistance, educational materials, and community connection.

Join the program at www.factormyway.com or call 1-855-498-4260.

©2021. Octapharma USA Inc. All rights reserved.

Date of preparation: 4/2021. NUW-0377-CAD

How Does My Child Qualify?

If there are NO academic, behavior or emotional concerns:

Make an appointment with your building principal/ADA coordinator, teacher (s), and school nurse and ask to develop a 504/ADA plan.

If there ARE academic, behavior or emotional concerns:

Write a letter to your child’s teacher asking for a formal evaluation process stating your concerns and submit it to the school. The school has an obligation to complete all assessments in the areas of suspected disability (ies) within 60 calendar days.

When assessments are complete: 1.

A meeting will be scheduled

3.

The Student Assist Team will then decide if your child: a. Has a disability b. Requires specialized instruction in order to make process

2.

Reports will be shared with you regarding your child’s abilities

Remember: Remember:

Disability + Specialized Instruction = Individualized Plan Disability + Specialized Instruction = Individualized Education Education Plan Disability + Related Services/Accommodations== ADA/504 ADA/504 Disability + Related Services/Accommodations

What are Related Services?

Related services may include: • • • • • • • •

Speech/language therapy Audiology (hearing loss) Psychological Physical/Occupational therapies Counseling Rehabilitative counseling School health services Transportation

For example:

If you are comfortable with your school district’s physical therapist then PT could be included on your child’s ADA/504 plan and they could receive physical therapy during the school day. Providing the therapist with additional information on physical therapy with an individual with hemophilia will probably be necessary, as well as contact information from the ordering physician to be sure the therapist proceeds slowly.

What Accommodations Can Be Provided?

Reasonable accommodations are provided to remove barriers related to access. For example: If your child is on crutches, ambulating safely in

the hallway is a barrier. Allowing extended travel time around the building removes that barrier. An extra set of books to prevent a heavy backpack and subsequent shoulder bleeds. A locker that is accessible from a wheelchair at the end of the row is more accessible.

Maintaining open and honest communication with your school district enables your child to be more successful. Stating your needs in a detailed, positive manner yields better results. Most school districts are very responsive, but they are working with tight budgets and are often understaffed. Letting them know that you appreciate their efforts on behalf of your child goes a long way. Also remember, there may come a time that your child may not want these accommodations such as leaving early from class while on crutches or a wheelchair as it calls unwanted, sometimes intrusive attention. More than anything, our children just want to fit it. Let them make those decisions. Their social interactions with peers are just as important, if not more important than leaving class early. Or, there are times that it is ok to “play the hemophilia card” and invite a special friend or attractive classmate to push their wheelchair or carry their books!

Sources: Federal Regulations Part 300

46 n LIFELINES for HEALTH n Spring/Summer 2022

WHAT’S the PLAN?

84 Beach Street Middleboro, MA 02346

CHES Mission To Inspire awareness and selfreliance for patients with chronic health conditions, their families, and their communities.

Editors in Chief Janet Brewer, M.Ed Eric Lowe

Editor Janet Brewer, M.Ed

Publication Designer Eric Lowe

Contributing Writers Megan Allen, RD, LD, CDCES Ian Bishop, MD Janet Brewer, M.Ed Meera Chitlur, MD Eric Lowe Gary McClain, PhD Skye Peltier, MPH, PA-C Judy Simms-Cendan, MD

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