Rare Share: Sharing Stories from the Rare Disease World
After thinking that we were not able to have children we got a lovely surprise! I was 42 when Grace was born. My pregnancy was wonderful except for the fact that Grace was small. She entered the world after doing beautifully through about 15 hours of labor needing some help to breathe. After holding her for about 15 seconds she turned blue and my life as I thought it would be was changed forever. We got our diagnosis when Grace was 8 days old. At first we were told she was complete Trisomy 9. When I googled it almost 6 years ago it was a terrifying diagnosis. I will never get those images out of my brain…the Dr. told us if she made it to her first birthday there was some hope. What a moment that was…We had a one in a hundred million baby.
But after 4 months in the NICU of 2 different hospitals we were finally able to go home with a Trach, a GJ Tube and the need for a nurse. Grace thrived at home! She grew stronger and stronger!! Not having to work so hard to breathe made such a huge difference. At 8 months of age we were cleared for tastes and we have never looked back. Today one could say my child is non verbal, non ambulatory, global delayed, CVI issues, dependent on a Trach and feed through a G Tube. We say we have a kind, happy almost 6 year old who needs support to walk but when she gets in that gait trainer boy does she fly!!! She is learning to communicate using pictures to make her choices, signs more ( especially if it’s for more bubbles) and participates in determining what she participates in day to day. Grace is delayed but we were able to place her in a fully inclusive Kindergarten where she comes alive around children, her vision is improving with the right supports and although she needs a trach to sleep can be capped during the day which means she can go in the pool!!! And finally our little girl who had such oral aversion that it took about 2 years for us to see her tongue now eats mushed bananas, yogurt and anything else I can puree for her. She loves to eat by mouth!
We have been so thankful to Facebook because without it we would never have made connections to other Trisomy 9 M families. We know so much more about our diagnosis and we have hope that the next families who receive this diagnosis might see our wee girl when they google it. And realize that it does not have to be as terrible as they might have first thought.
Thank you to everyone who has shared their stores for our Rare Share. The stories show how different yet how similar the rare disease world is. Enjoy reading these amazing, heartfelt stories!
Our daughter, Hanna, was born in Massachusetts with a very rare disease called ADNP syndrome, also known as Helsmoortel -VanDer A syndrome. So far, she is the only child who has been diagnosed in our state. It is an extremely rare neuro-developmental disorder caused by a mutation in the ADNP gene (activity dependent Neuroprotective protein). This gene is responsible for brain formation and development as well as brain function.
Hanna is almost 12 years old and was just diagnosed right after her 10th birthday in 2016. It was very hard being undiagnosed for 10 years. During every appointment, before she was diagnosed, the specialist didn’t know what they were dealing with; because of this, therapies and medical approaches were very generic towards a global developmental delay. This syndrome was discovered in 2014. There is not a lot of information about it and for this reason we hope for support and awareness. We want more support for undiagnosed families through more affordable testing and of course, we want to find a cure.
One of the obstacles that we encountered was the lack of support and information. We founded our ADNP tribe in 2016 when we got Hanna’s results. After the founding of the ADNP tribe we became connected with a group of parents through social media that had the same diagnosis. This group became our family and the support that we never had. They understood our concerns, answered tons of questions we had and acknowledged the grief that comes with this diagnosis.
Hanna is growing as a young girl trying to do her best. She does daily therapies and also participates in extra school activities that improve her independent participation in society. Her intellectual disability is a challenge but we are hopeful for a cure for this syndrome. We hope that Hanna can benefit from it and that it won’t be too late.
For more information about ADNP please visit www.adnpkids.com