Happy New Year!
Month 4 was an exciting month for Kemett. Here’s why:
- He had his largest bottle feed
- Kemett learned to hold his head up in tummy time. The longest he held it was for 1 minute
- His cousin was born on December 1
- He had his first Thanksgiving, Christmas Eve and Christmas
- He was in Dell Children’s hospital for 2 days with Bronchiolitis
On November 26, we had his diagnosis confirmed. It is something we were suspicious of 8 weeks prior, however, our labs were lost. It was such a frustrating process. We decided to get a new blood sample taken because the blood that was already at Baylor would not be covered by insurance. We immediately went and had his blood drawn. In the weeks that followed, I called 5 or 6 times to check on the status of the results. 6 weeks later, the geneticist finally admitted to us that there was no record of the blood even being drawn at the original lab- which meant it never made it to Quest and subsequently to Baylor. I could not believe that they had not looked further into what was going on and instead kept telling me it was pending at Baylor. In the end we just used the blood at Baylor because we didn’t trust the geneticist or Quest to get the results in a timely manner to us. This took less than two weeks to get us result.
Kemett has Prader-Willi Syndrome. A summary is below and you can visit http://www.pwsausa.org for more information. This is the best site for information.
What is Prader-Willi syndrome?
Prader-Willi syndrome (PWS) is the most common known genetic cause of life-threatening obesity in children. Although the cause is complex it results from an abnormality on the 15th chromosome. It occurs in males and females equally and in all races. Prevalence estimates have ranged from 1:8,000 to 1:25,000 with the most likely figure being 1:15,000.
PWS typically causes low muscle tone, short stature if not treated with growth hormone, incomplete sexual development, and a chronic feeling of hunger that, coupled with a metabolism that utilizes drastically fewer calories than normal, can lead to excessive eating and life-threatening obesity. The food compulsion makes constant supervision necessary. Average IQ is 70, but even those with normal IQs almost all have learning issues. Social and motor deficits also exist. At birth the infant typically has low birth weight for gestation, hypotonia (weak muscles), and difficulty sucking due to the hypotonia which can lead to a diagnosis of failure to thrive. The second stage (“thriving too well”), has a typical onset between the ages of two and five, but can be later. The hyperphagia (extreme unsatisfied drive to consume food) lasts throughout the lifetime. Children with PWS have sweet and loving personalities, but this phase is also characterized by increased appetite, weight control issues, and motor development delays along with some behavior problems and unique medical issues.
When we saw the geneticist in September we knew he did not have SMA or mytonic dystrophy. What we did know was that something was wrong with his 15th chromosome and it was not a deletion of the paternal copy. 75% of kids with PWS have a deletion. It was obvious that he had two copies from one parent and needed confirmation. So in his case I gave him two copies.
As soon as we found out, I began getting referrals to doctors. The main doctor in Texas is at Texas Children’s Hospital and is only there every other month. She comes from Johns-Hopkins and is a gastrointestinal specialist. We also knew that we wanted to see the top doctor (endocrinologist) and researcher in the country for PWS- Dr. Jennifer Miller at the University of Florida. After that, I was not sure but knew we wanted to get more information. PWS has an amazing association that sends you a huge packet of information when you first get diagnosed. Texas and Austin have chapters as well. Through the Texas chapter, I learned about an endocrinologist in Galveston.
We have our appointments for all of these doctors now. We are also have an appointment for a sleep study consult. Kids with PWS now get on human growth hormones to help them grow to a normal height which is why we will see an endocrinologist. The sleep study is to rule out sleep apnea.
When you look at the site there are many characteristics but all are variable. So we really have no idea who Kemett will be but isn’t that with all children.
Andrew and I were sad when we first heard the news and it took a couple of days to digest, but the more we have read and talked to people we know we can do this. Life won’t always be easy but when is life easy for anyone. We love Kemett so much and would do anything for him. He will have a life filled with doctors, therapists and medications but I also hope he will have a life filled with love, friendships, family and passion. I hope that kids will treat him kindly and not bully him. I hope that he will get to do things he enjoys. I hope that we can control the food portion so that he isn’t distracted by that (hey we might all become really healthy because of it). I hope that through hgh he gains strength.
It has been such a joy having him in our lives and we work hard with him but it’s worth it when you get to see him hold his head up for one minute or feed him 80 mL of food or see him gaining strength in his neck. Or just seeing him smile at you.
We have been lucky enough to meet another family with a baby the same age in Austin with PWS. We have been emailing and I can’t wait for the babies to meet and for me to meet another mom in our situation!
You will be hearing a lot about this from now on, so bear with us. We appreciate all of the love and support. We feel so lucky to have such wonderful people in our lives who love Kemett and love him for who he is, no judgement.
We have big hopes for 2013 as you read above! We wish you and yours a happy and blessed new year!