Ava-1P36 Chromosome Deletion Syndrome

Ava-1P36 Chromosome Deletion Syndrome

Ava: 5 years old

Diagnosis: 1P36 Chromosome Deletion Syndrome

USA

Although we were unaware at the time, we first noticed signs when Ava was just a baby.  Through the first 12 months of her life, she showed significant delays and major milestones. She didn’t sit up, rollover, crawl, or walk when she should have. Her doctors thought if she had surgery to have tubes placed in her ears it would improve her balance so she could walk, also improve her hearing. That surgery did help her on the balance spectrum so it was easier for her to learn to walk. They also thought she should have her tonsils and adenoids removed, thinking it would help her talk due to her nonverbal communication. Unfortunately the surgery didn’t help in that aspect, she is still unable to talk/communicate in sentences. Ava did not start walking on her own until after her second birthday. Her current symptoms are behavioral issues, throwing temper tantrum’s, biting herself, banging her head against things when she is upset. Ava has always had  sleeping issues but over the years it has gotten worse.Ava-1P36 Chromosome Deletion SyndromeShe often wakes in the night, coming into my room wanting me to put her back to bed. In the morning or when she wakes after naptime she sometimes throws big tantrum’s. We are unaware why she does this, and as a parent it’s very frustrating because we can’t do anything to help her. We seem to think she is still sleeping, or not fully awake when she goes through these episodes. Ava does not communicate through talking. She is able to say limited words but not clearly or in sentences. In the past six months Ava has developed more vocabulary/words and she tries really hard to communicate to us what she wants or needs! She does different gestures, sounds and motions to show us what she is thinking or wants. Ava is not toilet trained, she uses diapers/pull-ups. We started trying to toilet train her when she was about 2 1/2 years old but she just had no interest and got very upset when we tried. We have never gave up on trying, but she is not able to tell us when she needs to use the bathroom. There are many other symptoms of her diagnosis we continue to see as she gets older. Ava has been in physical and speech therapy since the age of two and she now is in speech, physical and occupational therapy. She recently received a communication tablet/device that has a program which basically talks for her. She is currently working with school and therapy on how to use this deviceAva-1P36 Chromosome Deletion SyndromeAva has had many different tests done in the past to figure out her diagnosis. She had an MRI done of her brain to see if there were any abnormalities, which came back normal. Her neurologist suggested Ava be genetically tested. This was done with a simple blood draw, that finally gave us the answer to why my baby girl was the way she is. After 4 1/2 years of not knowing what was wrong to find out all she needed was a blood draw really threw us back. Even though I was very upset and confused after everything we’ve been through we finally have an answer.  That is what we were searching for all along. She will continue to need different testing done throughout the rest of her life as there are many problems that could arise as she gets older. Unfortunately, there is no cure for her diagnosis, but there are medications out there to help with the symptoms. We have yet to put her on anything because the doctors are unsure of what could help her.Ava-1P36 Chromosome Deletion SyndromeI would say the biggest struggle as a parent is not knowing what her future holds. Being a parent of a disabled child has been the hardest and most rewarding thing I’ve ever done. Ava is not capable of doing many things for herself. She needs help dressing, and undressing, bathing, brushing her teeth, combing her hair, putting her shoes on, preparing her meals, etc. Even though she is not able to do these things for herself, we are hoping one day she will gain the strength and understanding to do them her own way and feel a sense of responsibility and  accomplishment!Ava-1P36 Chromosome Deletion SyndromeI would never change her and will always continue to care for her as long as she needs. I would love for Ava to be accepted how she is by others. I worry that people won’t give her a chance or take the time to understand why she is the way she is, or acts the way she does. I worry that she will be unable to find a significant other someday and have a family of her own. All the things a parent looks forward to, I have a sense of worry about that. I only wish the best of my daughters future and will continue to support her every need. One thing I’ve learned over the past five years is patience.20170906_161102Patience is one of the many things that keeps peace in our household. Instead of getting upset or overwhelmed when Ava is acting up or not listening due to her behavioral symptoms, we stay calm and try asking her what’s wrong and figure it out through gestures. Not all of the time does this work or calm her down, but you don’t know unless you try! Taking the time to understand her it would be the best advice I could give anyone.Ava-1P36 Chromosome Deletion SyndromeAva is the happiest little girl!  Unless her diagnosis is causing her to be upset, she always has a smile on her face and she has a belly laugh that is contagious! Ava is a free spirit with her “go get em” personality! She absolutely loves zebras and the color purple. She has a puppy and blanket that she would be lost without! There are not many things that Ava doesn’t like. She has made me the person and mother I am today. I had her at the age of 18 and wouldn’t change it for anything.  She made me realize what life is really about how important family is! I will also share that Ava has a little brother named Trey, my son. At first, Ava did not like him, but over time she has gotten used to him and is warming up to him each and every day! I’m thankful that she will always have her little brother to protect and support her through life! My children are my world and I would do anything for them!

My email is myranda.millard@gmail.com

Thank you for taking the time to read my daughters story!