Give Avia the Gift of Mobility This December

Please Consider Helping Us Help Avia Walk!

Our daughter Avia was diagnosed this past May with something known as Pitt Hopkins Syndrome. A parent’s worst fear had now become a reality to both Daniel and I. I will never forget reading the responding email from the geneticist in the grocery store while loading the conveyer belt. I had never heard of Pitt Hopkins syndrome, I had no idea the syndrome existed. Why would I? We had spent our years focused on the things we knew and understood while trying to learn how to grow and navigate through the hard stuff that came with growing children and having a large family. I’ll never forget reading the words “lifelong disability…May have a few words…impaired mobility.” The tears came fast and hard and all I could think was “Why God, Why?.”

My heart is still grieving for what could’ve been but will never be. We’ve landed at a different destination than what we had originally hoped and planned on. God has a different path intended for Avia’s life and ours. I’ve loved the Lord since I was a little girl. I’ve been a believer of His goodness since as long as I can remember. He has always proven Faithful. The pain of what this has been on my soul, cannot be put into words. I hold onto to my husband’s words in some of the hardest moments “it is not about us.” God works in mysterious ways, that I have always believed to be true. So I’ve tried to view the diagnosis through a different lens. I am trying to view it as another way for us to serve our Maker. An opportunity that I wouldn’t have had without my Beautiful daughter’s presence in my life, to witness God’s love and faithfulness to all the specialist, doctors, and anyone else we should cross paths with. Avia’s life is a testimony of God’s promises. She is a Beautiful Gift “fearfully and wonderfully made” a daughter of the Most High, ready to radiate His love and light to all whom God calls her to.

Avia is now almost 16 months old! Avia loves her sister and brothers, she loves music and being read to, she loves new adventures. She loves tubby time and getting pretty. Avia is also very particular- she knows her routine quite well especially when it is bedtime. She is not a fan of physical therapy, she fights against it every session, coming out stronger than she was when we arrived. She loves meeting new people and taking in their expressions and mannerisms. She listens intently, we believe it is her way of communicating back to us that she is very much interested in the details.

Currently Avia is a part of the Pitt Hopkins Clinic at MGH in Boston, Ma. She has seen so many specialist between the clinic and Boston Children’s, I cannot keep count. She has PT twice a week, one session through early intervention and one outpatient session through Reliant, speech therapy once a week through early intervention and is on a waiting list for a speech therapy clinic ran out of Worcester State College, OT through early intervention twice a month and is on a waiting list for OT, Speech therapy, and Feeding therapy outpatient services out of Reliant. Avia started services through early intervention at 7 months after my gut feeling pressed to have her evaluated. Avia has one word “Mama” and she can shake her head back and forth for “no” which we believe to be intentional and used correctly. Avia cannot crawl, she cannot sit herself up from a lying down position. She does however have a strong core which allows for her to be able to sit up assisted by a boppy pillow or pillow. Avia was not born with the Moro reflexes, she is learning them. When Avia goes to fall over, her brain doesn’t que the use of her arms and hands to catch herself which would otherwise lead to her hitting her head or either side of her face. Avia cannot hold her own bottle yet, there has been much progress with this task but she still struggles with drinking and holding the bottle up at the same time. She uses a straw sippy cup, she has gotten better with getting the straw to her mouth and sucking. Avia struggles with getting things to her mouth, so she cannot yet feed herself. She does however, love the textures of food all over her hands and in her hair. She is still fed pureed foods, our meals, because chewing food and moving it around takes work. Low tone in the mouth is common and why she will be having feeding therapy. Avia can stand!!! Her brain is becoming more familiar with the movement of walking. She does hyper extend at the knees and will be being sized and fitted for AFO braces Nov 21st to hopefully help her learn weight bearing in her hips and bending of her knees during steps.

After having to process and go through all of what this syndrome entails, Faith is what I cling to. I am exhausted. We are exhausted. And still, I can often feel like I am not doing enough for her or asking myself what else can we do for her? All milestones are washed away with a disability such as this, and fighting for Avia’s brain to learn how to process all movement is up to us. A specialist words a couple months back “Pitt Hopkins children can learn to walk, but it takes A LOT of work and dedication and it will take that for your daughter.” These words stung and brought Joy at the same time. We left that office with hope, and at our next PT session, another clinic out of Waltham, Ma known as Napa Center was recommended to us for her best chances of walking along with some other essential movements. They use intense therapies such as DMI, and they offer an intense program that spans for three weeks long. Unfortunately, I found out that Avia’s health insurance was not accepted there and that it is quite costly. But I was not going to give up because my daughter’s quality of life was worth it. I filled out the intake paperwork with the hopes to get her into a summer session in 2025, planning on having time to secure the funds. This past Wednesday while heading home from her orthopedic appointment out of Boston Children’s, I received an email from Napa stating that a session had become available that would meet our daughter’s needs. I hesitated to respond initially but after doing so I was made aware that their summer sessions for intense therapy for 2025 are booked and Avia would be added to a waitlist along with 100 other families.

With this all being so sudden we are asking for help. We were quoted 4,500$, the session will run from Dec.1st-20th. Two hours daily, 145$ per hour. A therapy such as this, could change Avia’s life drastically and help her to be able to move around with her siblings like I once imagined while carrying her in my womb. We are aware that Christmas is just around the corner but if you are inclined to give anything, every little bit helps. We Thank You So Much!!