My name is Lisa Mazur and I am the mother of a 14-year-old little girl with a Chromosome 18q- deletion. I am telling you our story so that you may learn about Chromosome 18 and give the Chromosome 18 Registry and Research Society your support.
Alessandra (Ally) is my first child. I was a very healthy pregnant person steering clear from anything that could potentially harm my baby or me. My pregnancy was uneventful. Everything went smoothly through delivery and Ally was born at 1:21 am. On November 11, 1998. After delivery it was noted that Ally had a very short umbilical cord but this did not seem to pose any significance and my husband and I were transferred to our hospital room with baby going off to the nursery to be cleaned and diapered.
The following morning came early, and as our daughter was brought to our room, my husband and I delighted in her beauty and were in awe of our new addition. A nurse came in and informed us that the pediatrician from the local office we had chosen would be in shortly to give us a report on our new little girl. What followed was the biggest shock of our lives. The pediatrician reported to us that our little girl had a complete cleft of her hard and soft palate. In addition, a local orthopedist who had looked at her said she appeared to have a rare foot deformity called bilateral congenital vertical talus. While my husband and I were trying to gather our senses from the blow that we had just received, the pediatrician spoke on about us going to see specialists at Boston Children’s Hospital and setting these appointments up as soon as possible.
From that moment on our lives have never been the same, not that we expected that they would be. We had just had our first baby and we were expecting changes, but nothing could have prepared us for the journey ahead.
Let me start by saying that I am not a city person. I had expected to take my little bundle home with me and keep her sheltered from the weather and elements until spring came. So the thought of having to bring her to a hospital in the middle of downtown Boston was nearly enough to put me over the edge. Her first appointment was with a highly regarded orthopedist. Ally was only six days old. We were told that her foot deformity was, indeed, vertical talus and that we could try serial castings (casts would be put onto her feet every week to try to move her talus bone into the correct position) to see if the bones may move into the correct position on their own. But more than likely she would need surgery to correct this, and if she did not have surgery she would not walk. So we took home our six-day-old little girl with casts on her feet weighing more than she did, and we were thankful that she was healthy. All it takes is one trip to Boston Children’s Hospital to realize how lucky you are to have a healthy child.
Our next specialist visit was the following week. It was with a well-known plastic surgeon. He dealt with cleft palate repair and informed us that Ally’s palate would be closed by surgery at around nine months of age. The nurse there told us that the surgeon performed this surgery several times a week and that we should have faith in his ability. We set up our next appointments and left the hospital for a second time.
We lost count (after our 100th) visit of how many times we have been to that hospital since those first few days and weeks. We have since seen many other specialists at Boston Children's Hospital. Over the next few months we also found out that Ally had an ASD (Atrial Septal Defect (hole in her heart)), narrow ear canals, a mild to moderate conductive hearing loss, a hemi vertebrae (irregular vertebrae in her spine), slight scoliosis, kyphosis (both the scoliosis and kyphosis are caused by the hemi-vertebrae) and that one kidney was smaller than the other. We spoke to a nurse on the cleft palate team and were told that feeding was going to be an issue. I had my heart set on nursing Ally but was not able to. I pumped breast milk for a few months and fed it to Ally in a special bottle called a Habermann Feeder. Ally’s weight was less than the 5th percentile and given the surgeries she was going to need, we decided to switch to a high calorie formula to increase her weight. Ally has had five surgeries, the repair of vertical talus (6 mos.), the cleft palate repair (9 mos.), and closure of her ASD (31 mos.), tonsillectomy (4yrs), Pharyngeal flap (6yrs). She has done amazingly well through all of them. Ally’s largest obstacle at this time is her speech and language. She has motor planning issues related to her speech and language, which is compounded by palate issues and a mild to moderate conductive hearing loss. She communicates very well considering all of her obstacles. She has worn two behind the ear hearing aids since she was about four months of age. They have helped her hear within the normal limits.
When Ally was in the hospital the first few days after birth blood was taken to check her chromosomes for abnormalities. The initial test results came back normal. We found out in January 2002 through subteleomeric chromosome testing (this looks at the tips of the chromosomes) that Ally has Chromosome 18q- syndrome. Her break is in the 22nd band on the long arm of one of her 18th Chromosomes. This means that Ally is missing the tip of one of her 18th chromosomes from the 22nd band through the terminal band. Immediately after finding this out I went home and searched the Internet for information. I was so excited to find the Chromosome 18 registry and research society! I have learned so much from this organization in such a short time I can't tell you how grateful I am. Through our association with the society we have had the opportunity to communicate with other Chromosome 18q- families via the Internet and have found a vast support network exists. We have attended several of the Chromosome 18 Research and Registry Society’s annual conferences and met some of the over 500 families who belong to this group. It was an amazing experience to meet other children and parents who have walked in our shoes and beyond. From the Society, we have learned of medical issues to be aware of. We have learned that many of the children are growth hormone deficient and benefit from growth hormone therapy (very expensive and not usually covered by insurance) not only in linear growth but for cognitive improvements as well. We had the privilege of going to San Antonio, Texas where Chromosome 18 Clinical Research Center is located, and we were able to become part of a study regarding growth hormone treatment thyroid problems. We found out that Ally initially had transient hyperthyroid (over-active thyroid) levels and that now she is hypothyroid and takes a thyroid supplement. This is a condition we need to monitor. There is amazing research taking place on chromosome 18 dealing with all of the Chromosome 18 abnormalities. Research by nature is costly and time consuming but it must be done to give us answers.
The Chromosome 18 Research and Registry Society has already given us so much. I am glad to take an active role in this great organization as the Northeast Coordinator. Our family has grown substantially since Ally was born in 1998. We now have three other children, Harrison (13), Rachel (10), and Sydney (9). Please help us by showing your support for the Registry.
Please click on the Chromosome 18 Logo below to show your support for Ally and the Chromosome 18 Registry.