Blake Berry:
Blake was my fourth pregnancy. I felt like something was different early on; just an uneasy, anxious feeling would be the best way to describe it. I remember telling my mom I had three perfectly healthy kids and kind of felt like we were pushing our luck with another.
I went for my first ultrasound and everything was normal for the most part. They said my amniotic fluid was a little low and the baby’s measurements were a little off; he was small for his gestational age. I had a second, then a third ultrasound to monitor his growth and to double check the due date.
I was scheduled to be induced on the morning of June 15, 2006. I started having contractions on the way to the hospital and Blake was born less than 2 hours after the induction. He came so fast I had to literally use all my strength to hold him in until the doctor got there. When he was born he was very quiet. The nurses positioned themselves between us and the baby so we couldn't see what was happening; I still don't know all the details but I do know they had to give him oxygen to get him breathing. I still remember the look of concern on my doctor's face when he asked the nurses if they
needed help. I had gotten a shot of Staydol just before Blake was born. It isn’t supposed to be given that close to delivery because it can make the babies sleepy, but no one anticipated he would come so fast. No body noticed his low muscle tone at first and just assumed he was non-responsive because of the medication.
After what seemed like forever he started crying (weakly) and stopped as soon as they gave him to me. He hardly cried at all in the hospital and had to be woken up and kept awake to eat. They did have to put him in the warmer for a short time because he had a hard time regulating his temperature. He was 6 pounds, 11 ounces, the smallest of my babies.
After we went home problems started. He would scream and arch his back during feedings, almost like he was getting mad. He would spit up a lot, and wake up screaming as soon as we put him down. Swaddling almost seemed to distress him more, and the only thing that calmed him was rocking or swinging; not gently, but so quickly that it seemed as though if you weren't holding on he would fly off.
He wasn't gaining much weight and at 2 months he weighed only 9 pounds. He was down to the third percentile and was considered "borderline failure to thrive". We kind of hung in there for the next few months, which were a blur because he was crying all the time and never slept. We didn't figure out until he was almost a year that he had been suffering from reflux and, thankfully, he grew out of it soon after.
At his 6 month check he wasn't sitting up yet. His doctor was concerned but said we could wait until his 9 month to see if he could catch up. His 9 month came and he still couldn't sit up for more than a few seconds. She finished her exam and said that he had hypotonia...she didn't know why...it could be a symptom of many different things...she was referring him for therapy. I remember starting to cry and wondering what was wrong with my baby and suddenly being very scared.
He was evaluated by Early On and they came to our house to do PT and OT once a week or so. We also started private therapy at Spectrum Health Hospital. We were referred to various specialists; a developmental pediatrician, geneticist, neurologist... and scheduled for endless tests; MRI, EEG, swallow study, numerous blood and urine tests. All came back normal.
We went to see the pediatric neurologist when Blake was about 1. He could pull up to his knees and sit but that was about it. If he started to fall over he couldn't catch himself because of his tactile sensory issues-he wouldn't out his hands down to stop himself from falling. He started rolling at about 6 months but rarely did. It was too hard for him because of his muscle tone. The neurologist was an expert and had been working and teaching in the field for at least 30 years. He observed Blake and noted that he had a lot of twisting movements with his hands and feet. We had noticed this, of course, but it never crossed our minds that it could be something neurological. At the end of our appointment he diagnosed Blake with choreoathetoid cerebral palsy. Clinically he appeared to be a text book case. He said he wanted to continue with genetic testing but in the meantime the diagnosis would get more services covered by insurance.
We went year or so doing therapy 4 times a week; we had added feeding therapy because Blake would gag on anything with any sort of texture. We had to puree all his food until it was the consistency of applesauce and supplement his diet with Pediasure to make sure he was getting enough calories. By 15 months he had moved up to the 15th percentile. Luckily we had a great therapist who helped him overcome his texture aversion at about 18-20 months his feeding drastically improved.
His swallow, however was getting worse. This alarmed his doctor because CP is a static disease, which means it doesn't get worse. The fact that his swallow was getting worse led her to believe this was something else. She wanted to send him immediately to the Mayo clinic, but it wasn't covered by his insurance. She then suggested Children's Hospital of Michigan in Detroit, but wanted to send him for another round of genetic testing first.
He had already been tested for numerous genetic conditions but all had come back normal. She said they had some newer genetic testing available called a FISH test. We went in not expecting much. Two weeks later we got the call: a duplication on his 17th chromosome, also known as Potocki-Lupski syndrome.
The last 4 years have been a roller coaster of emotions. We went from not knowing what was wrong with our baby to being dx'd with a condition virtually nobody has heard of. Then we found the yahoo support group and were so relieved…finally there were other people who knew what we were going through.
Blake is now a happy, healthy 4 year old and just started his second year in an Early Childhood Special Ed preschool. He is doing well, although his speech is still his main struggle. It is improving more and more every day; he repeats almost everything we say to him and is doing much more spontaneous talking. He is very active and is only a little behind in fine and gross motor skills. He loves cars and loves music and singing. He is doing well with potty training, however I think it will be a while before he is completely done. He has outgrown his sleep apnea and as of today’s swallow study we are officially done thickening his liquids. His recent repeat heart study showed nothing abnormal, so we won’t have to recheck that for another 3 years.
I feel so lucky to have Blake, even after all we have been through. If I had the choice to have him the way he is or have a “typical” Blake, I would choose to have him the way he is. It has made him who he is and it has made me who I am. I know that he was given to us for a reason and he has truly changed my life. Yes, there are days when the challenges seem like too much too handle, but I try to think of how much worse it COULD be, and do my best to get through the day…and at the end of every day, I thank God for giving us our sweet little boy.
Contact Info:
