In December, we took Kiley to see a Genetics Specialist. The more we talked to doctors over the last two years, the more we began to think that her low birth weight, heart defect, seizures and developmental delay could all be linked. The Genetics Specialist confirmed our suspicions and diagnosed Kiley with Mowat Wilson Syndrome (MWS).
The following is a definition that I found online. I have bolded the symptoms that Kiley has:
Mowat-Wilson Syndrome (MWS) is a recently defined mental retardation syndrome (1998) usually associated with multiple health defects and recognizable facial properties caused by a genetic mutation. The major health defects include Hirschsprung's Disease (although not in all cases),
intellectual disabilities,
seizures,
congenital heart disease, Agenesis of the Corpus Callosum, male genital abnormalities (hypospadias) and
smaller than normal heads. Facial properties include prominent narrow chin, open mouth, cupped ears with
protruding lobes,
broad nasal bridge with rounded nasal tip, and
wide set eyes.
Intellectual disabilities - Kiley was diagnosed with a developmental delay at 15 months when she wasn't crawling yet. We put her in Speech and Occupational Therapy thru ECI. They came to our house once a week to work with Kiley. Since the diagnosis, we have gotten her into Physical Therapy, Occupational Therapy, Speech Therapy and Feeding Therapy at Our Children's House at Baylor. We go dowtown twice a week.
She has physical therapy in the pool every monday morning.
Then we get her dried off and changed and we walk two blocks back to Our Children's house for Occupational Therapy. She always starts her OT session by swinging. This gets her more arroused and more willing to work and play.
On Tuesday Mornings, she starts with Physical Therapy in the Gym. This is a cool walker that helps her walk on her own without support.
After PT, she has speech and feeding therapy. I wait in the waiting room for her during these sessions. She just started these this past week. The therapists said she did great for her first sessions.
Our Children's House is a very expensive, but also a very intense program. It is supposed to be one of the best in the area, especially with feeding. As of now, therapy is really the only thing we can do to help Kiley develop, so getting her the best therapy that we can find is a no brainer. It is so reassuring that she has been meeting all developmental milestones, just at a slower pace. As of now, she is at the same developmnental stage as a 1 year old. She crawls all over the place (and fast), she pulls up on furniture and cruises around.
The speech and feeding are more of a concern with MWS, so we want to really focus on those. Kiley says Hi and Bye. She also says Momma and Daddie, but not all of the time. She doesn't quite understand that those are our names. She also says Baby. We have also been working on feeding. In the last week, she has eaten string cheese. She actually puts it in her mouth and swallows! Very big step! We are also working on sign language. She can say "more", "all done" and "bath".
So she is definitely making progress. She works very hard for every milestone she meets and we are so proud of her!
I bet you are wondering how we manage this intense therapy schedule with a 6 month old. Well we have had a recent blessing come into our lives. We knew that we could not keep Presley up at the hospital during Kiley's therapy, so she would need to stay home. I started asking around for recommendations. We have a old family friend that is currently at UNT, so I called her one day to see if she had any friends that would like to help us out. She said she would love to help us! So, our dear friend, Lindsey has been helping us ever since. She comes to stay with Presley while we go to therapy. She also stays a couple extra hours with both girls so that I can run errands if I need to. We are so Thankful to have Lindsey. It is so reasurring to leave the girls with someone that I have known her whole life and completely trust. We love you so much Lindsey and appreciate everything you have done for us over the last couple of months!
One day after Lindsey left, Kiley started crying and went and hid in the corner. I had to take a picture. It was so sweet. Needless to say, both girls love Lindsey!
Seizures - Kiley had her first seizure in January of 2010. It was diagnosed as a febrile seizure (induced by fever). It was a complex seizure (lasting longer than 10 minutes), which results in a trip to the ER where she gets medication to get her out of it and then admission to the hospital to be monitored for the next 24 hours. She had her 2nd complex febrile seizure on November 4th. While we were in the hospital for this one, we met with a neurologist who assured us that these seizures were not doing any damage and as long as they are fever induced, he is not concerned. Many kids have these and grow out of them by the age of 6. He prescribed a medication that we can give Kiley at home instead of taking her into the ER. Since the 4th, Kiley has had three simple febrile seizures, one Thanksgiving morning, one on December 15th, and the most recent one was on March 12th. She came out of these on her own and only lasted a couple of minutes. They have been more recurrent because Kiley has constantly been sick since she is in Mother's Day Out and cold and flu season has hit. We took her out of MDO at the end of Janurary and she had been completely healthy until last weekend. Fortunately, her immune system is not affected by MWS. We continue to pray that even though the seizures are very scary for us, they continue to be fever induced and she grows out of them without forming epilepsy.
Congenital heart disease - Kiley was diagnosed with an Atrial Septal Defect (ASD) when she was 10 months old. At the time it was 8mm and now it is 10mm. At our last visit with the cardiologist in December, it was confirmed that the hole will not close up by itself and Kiley will need open heart surgery. This condition will not affect her until she is at least 12 or 13, so she has been going every 6 months for a checkup. She will have Open Heart Surgery in June of 2012 to close the hole.
As for
physical features of MWS, Kiley's seem to be pretty minimal. Most people would not even notice at this point. She has a smaller than normal head. As for the protruding lobes, her ear lobes curve out a little bit at the bottom. She also has a broad nasal bridge with rounded nasal tip which basically means that the bridge of her nose comes down more than ours does.
Last month we took Kiley to the eye doctor. Her therapists had some concerns abou ther eyesight. He gave her a B+. He said she has some nearsightedness and a little bit of a stigmatism. He was a little concerned about the nearsigtedness because it is very uncommon in children, but there was no need for glasses at this point. He also checked her for two other things and she did not show signs of them. We were very thankful for the good news! She was such a big girl and sat up in the chair all by herself!
Since MWS is so new, we do not have a lot of answers to our questions and concerns about what will be in Kiley's future. Since it was founded, they have studied both children and adults, but the adults that they studied were not diagnosed at a young age and there was not the therapy available that we have today.
Over the last few months, we have done some research and as far as we have seen and read, we feel like we are very lucky and that Kiley is on the moderate side of the syndrome. There are other families out there that have had it way harder than we have, and we thank God for that and pray for those other families.
We have a very loving family and a great support system. Our lives changed forever last December and we are adjusting the best way we know how. We know this is God's plan for us. We know that this is nothing that we did and we know that it is not hereditary and will not affect Presley. It has already made us stronger as a couple and as parents. Saying that Kiley is a strong little girl is absolutely an understatement. She has already shown us her strength in everything she has been through in the last two years and we know she will be an amazing person despite the challenges she will face.
She is an individual and her own person like everyone else, so her journey through life with MWS will be different than all others. All we can do is get her the therapy that she needs and treat her for the things that can be treated. We will continue to pray that God will guide us and help us to stay positive. The big concern for the future are her seizures. We pray they are just temporary and will not get worse.
We have multiple purposes for this post. We are blogging about MWS to help spread awareness. Since this condition is so new, there isn't a lot of information or support groups out there. It isn't that it is rare, it is just new and under-diagnosed. We can only hope that word spreads and we are some day able to have a local support system.
We are also blogging about MWS because we know you read our blog because you love our family and love Kiley and only want the best for her. We want to share Kiley's journey with you. We appreciate all of the love and support you have given us and your prayers and positive thoughts are needed now more than ever.
