My sibling has special needs: a Q&A

Posted by:

aleah and blake

Introduction

I sat down with 10-year-old Aleah Smith and her father—who is known to the UDN and rare disease community as “Chad the Dad”—to talk about Aleah’s experiences as a sibling of someone with special needs. Aleah’s little brother, Blake, is 7 years old and is undiagnosed.

Q&A

Q. Tell me about yourself—what is your favorite subject in school?
A.
I’m in fifth grade. My favorite subject is math. And I am going to be a doctor when I grow up. I’m going to be a pediatrician and do research at the NIH and help kids like my brother.

Q. What is the most awesome thing about your sibling, Blake?
A.
I get a lot of medical practice already, so I can be an amazing doctor like the ones at the NIH. We get to do all kinds of fun activities. There are special things we only get to do because of my brother, like going to the Paralympics. We go to Christmas parties put on by organizations like the MDA [Muscular Dystrophy Association].

Q. Have you made friends with any other kids with special needs or siblings through those organizations?
A.
Actually, a cool story is that at one of those parties, there was a girl from my class there. We started talking and found out that she has been diagnosed with Charcot-Marie-Tooth (CMT). I had no idea before that we had so much in common, because she was private about her disease. I also have made friends through the Little Miss Hannah Foundation. Hannah was a little girl with Gaucher disease whose older sister I became friends with. We relate a lot and have a lot in common. I meet other siblings running for MyTEAM TRIUMPH with my dad. I can learn from them and they can learn from me. It makes me feel better because I get to know that I have similarities to other kids.

Q. What difficult feelings do you have because of your sibling?
A.
It’s difficult feeling that my brother could die at any time. Knowing this, I spend as much time as I can with him.

Q. What do you do when you have a hard time talking to your parents about your difficult feelings?
A.
I talk to my pillow, because the pillow just listens and can’t answer back. That helps me feel better.

Q. Do you ever feel jealous of your sibling? Why?
A.
Yes I do feel jealous sometimes. He is the youngest in the family, so he’s the baby and gets the most attention. Plus he has special needs, so it feels like he gets 3/4 of the attention.

Q. What kinds of things help you deal with those difficult feelings?
A.
We go on daddy-daughter dates and my parents make sure I get alone time with them. My dad and I just went on a Valentine’s Day date, and my mom took Blake on a date. My dad and I also run for MyTEAM TRIUMPH, and we just recently did the hot chocolate 5k run, which was really fun. It doesn’t involve Blake directly but it does raise money for the Ronald McDonald house.

Q. Do you feel like you have to help your parents care for your sibling?
A.
Yes, I do feel like I have to help. For example, it can be difficult for my parents to suction him when they are driving in the care. So I learned how to do it and can help them. I think my parents appreciate when I help with Blake.

Q. Do you feel like your parents share enough information about your sibling with you?
A.
Sometimes I wish they would tell me more so I would know everything that’s going on.

Q. How is your life different from other kids?
A.
Sometimes my brother’s teachers need to pull me out of class to help them understand what he is saying.

Q. What do you wish teachers knew about your family?
A.
I wish they knew how often I have to go over to other’s people’s houses in the middle of the night when my parents have to take Blake to the hospital.

Q. How do you explain Blake’s condition to your friends?
A.
I describe what his tracheostomy does for him and help them understand that’s why he has a hard time speaking.

Q. What is your hypothesis about what your brother has?
A.
I think he might have some clog in the branches that come out of his spinal cord—not enough to make him paralyzed. There also could be a virus eating his muscles that makes it hard for him to speak and move. I came up with this question because I know a lot about him and want to be a researcher to help more people like my brother.

Additional information

Smith FamilyThank you again to the Smith family for sharing their words of wisdom with the UDN! To hear more from Chad the Dad, click here to read his articles “8 Things You Don’t know About the Smith Family” and “Finding the New Normal”.

The links to organizations mentioned during the interview can be found below:
Muscular Dystrophy Association
myTEAM TRIUMPH
Little Miss Hannah Foundation

You may also contact the UDN Coordinating Center with questions by emailing UDN@hms.harvard.edu or calling 1-844-746-4836.

0

The Undiagnosed Diseases Network at ACMG 2017

Posted by:

group photo resized

The Undiagnosed Diseases Network will be at the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting in Phoenix, Arizona from March 21-25, 2017. Attendees can stop by Booth #437 to chat with UDN investigators and learn more about the study.

UDN Speaker Presentations

Thursday, March 23, 1:30 PM – 3:30 PM

48th Annual March of Dimes Clinical Genetics Conference: The Undiagnosed Diseases Network – Changing the Paradigm of Rare Disease Diagnosis, Treatment and Research (full list of speakers and topics)

Friday, March 24, 3:45 PM – 4:00 PM

Abstract 37
Presenter: Matthew Wheeler (Stanford Clinical Site)
Title: Diagnostic Yield of Research Whole Exome Sequencing in Patients with Undiagnosed Diseases and Previously Insurer-Denied Clinical Exomes

UDN Poster Presentations

Thursday, March 23, 10:00 AM – 11:30 AM (odd poster presentations)

Poster 201
Presenter: Jill Mokry (Baylor Clinical Site)
Title: 17p13.3 Microdeletions Between YWHAE and LIS1 (PAFAH1B1) Cause a Unique Leukoencephalopathy

Poster 231
Presenter: Cecilia Esteves (UDN Coordinating Center)
Title: Diversity in Genomic Research: The Undiagnosed Diseases Network Experience

Poster 359
Presenter: Kimberly Splinter (UDN Coordinating Center)
Title: Does this patient sound like someone you know? Piloting an Internet case finding strategy in the Undiagnosed Diseases Network

Poster 407
Presenter: Kelly Schoch (Duke Clinical Site)
Title: Rare and Undiagnosed Diseases: The Value of Thinking Beyond the Exome

Poster 433
Presenter: Ellen Macnamara (NIH UDP Clinical Site)
Title: The Phenotypic Spectrum of Gorlin Syndrome, as Evidenced by a Father and Son in the Undiagnosed Diseases Program

Poster 709
Presenter: Jennifer Murphy (NIH UDP Clinical Site)
Title: Compound Heterozygous Mutations in SDHA Results in Mixed Phenotype with Features of Leigh Syndrome and Hereditary Pheochromocytoma

Poster 793
Presenter: Felicitas Lacbawan (NIH UDP Clinical Site)
Title: Costing the Diagnostic Odyssey: The-NIH Undiagnosed Disease Program Five-Year Experience

Friday, March 24, 10:30 AM – 12:00 PM (even poster presentations)

Poster 266
Presenter: Nicole Walley (Duke Clinical Site)
Title: Characterizing Patient Applications Not Accepted to the Undiagnosed Diseases Network (UDN)

Poster 334
Presenter: John Phillips III (Vanderbilt Clinical Site)
Title: Precision Medicine Successes from the Undiagnosed Diseases Network (UDN)

Poster 340
Presenter: Szabolcs Szelinger (UDN Collaborator)
Title: Diagnostic Utility of Collaborative Gene Matching Databases in Delineating a Novel Neurodevelopmental Syndrome Associated with a de novo NACC1 Mutation

Poster 462
Presenter: David Murdock (NIH UDP Clinical Site)
Title: Systemic large vessel arterial calcification in Fahr’s disease patients harboring truncating mutations in SLC20A2

Poster 542
Presenter: Vandana Shashi (Duke Clinical Site)
Title: Patient Narratives from the Undiagnosed Diseases Network (UDN): The Duke Clinical Site’s Experience

Poster 580
Presenter: Chris Lau (NIH UDP Clinical Site)
Title: Investigating non-coding variants in patients’ exome data: towards the characterization of germline DNA variants as potential contributor to the dysregulation of gene expression

0

Finding the New Normal

Posted by:

Finding the New Normal, by Chad Smith

Introduction

My name is Chad Smith, also known as “Chad the Dad.” My wife, Becky, and I are the proud parents of two wonderful children, Aleah who is eight years old, and Blake, who is five years old. Blake has a long list of medical challenges, which continue to plague his life. Throughout the past five years our family has grown and learned many different tricks in dealing with the trials that come with being Parents of a Medically Challenged Kid. Continue Reading →

0

UDN Webinar Recording and Transcript

Posted by:

We recently held a webinar, hosted by the National Organization for Rare Disorders (NORD), to provide an overview of the UDN, discuss the application and evaluation process, and review financial considerations. Listeners also had the opportunity to hear from a patient who has been through the UDN clinical and research evaluation. Below is a video recording of this webinar along with an interactive transcript.
Continue Reading →

0

The Long Road: A Pemphigus Patient’s Journey to Diagnosis

Posted by:

Pemphigus and pemphigoid (P/P) are rare, autoimmune blistering diseases that affect the skin and mucous membranes, causing lesions that do not heal. Like many suffering from a rare disorder, the diagnostic journey for a P/P patient is complicated and stressful. On average, this journey involves five different doctors over a period of ten months before a patient receives a correct diagnosis. (Source: pemphig.us/diagnostic-data ) Once a correct diagnosis is received, P/P patients begin the long process of managing disease activity. There is no cure for P/P. Many patients are able to achieve a state of remission; however, insurance regulations make it difficult for some patients to receive the most effective treatments.

Continue Reading →

0

“Together We Are Strong” Comes to Life

Posted by:

Running for Rare Diseases Team Dinner

“Living with a rare disease, for us, means living with the resilient spirit of Bug. It means never giving up and constantly facing the unknown with great bravery and great joy,” Kelly De Angelis said, as she ended her moving speech to the teary-eyed audience filling the atrium at Harvard Medical School on the evening of Saturday, April 16.

Continue Reading →

0

Running for Rare Diseases 2016 Kickoff

Posted by:

Running for Rare Diseases, also known as Running4Rare, kicked off its 2016 marathon season with a fun-filled event at the beautiful Harpoon Brewery on March 22, inviting runners, patient partners, and family members to come together and get excited for the upcoming races.

This group is unlike any other charity organization that runs in the Boston Marathon. In last year’s race, over 200 non-profit organizations raised upwards of $28.3 million for charity, but Running4Rare has a unique angle appropriate for its rare patients it supports: each marathoner in Running4Rare is matched with a patient partner who has a rare disorder.
Continue Reading →

0
Page 1 of 2 12