Claire Bear

Ever since our special little girl entered the world we have been searching for answers. Answers are not always easy, especially the ones that we have received. 
Recently Claire and I spent a week with an Educational Psychologist and a world renowned Pediatric Neurologist in Cape Town....... life will never be the same! 

I have been extremely worried and nervous about Claire's schooling situation for awhile, not sure where she needed to be and never wanted to stop pushing her to go further! Our school year started in January, and was the first year Claire went without a facilitator (aid) as we felt we needed to try without one. Four months into the year I went into full panic mode, as we felt Claire was not learning anything. The last few months have been a combination of searching and questioning.....we put her on ADD medicine and they seem to be helping. We felt Claire was "floating" through her days not gaining much...hence the need for a good educational analysis! After a week spent with the Psychologist Claire scored in average range for verbal and global knowledge, but incredibly low in auditory processing and sequencing!  Basically, Claire will never survive in a classroom setting without assistance, and will have extreme learning disabilities such as Dyslexia!  She will need to be somewhere where adaptations are allowed, as Claire will struggle with writing.  Believe it or not, all of this was good news as I was desperate to know if there was the possibility that she COULD learn...and she can it will just be extremely difficult!We are slated to head back to the States no later than June of next year, so I am going to be doing a lot of pushing, one on one, and tutoring to compensate for what South Africa can not offer her, but what we can do privately!
The second part of our trip was the visit with the Neurologist!  She said instantly that it was most definitely a genetic disease, and not neurological. She did a thorough examination, along with a full spinal X-ray.  After a week the Neurologist phoned to follow up on Claire.  She has Scoliosis, it is a slight curvature and requires us to follow up in 6 months as they have to watch and see how aggressive the curve is to decide on what to do. The Neurologist discussed her with some of her colleagues, and everything pointed to Marfan Syndrome! There is no test currently in South Africa, and very little testing overseas for Marfan Syndrome. Marfan Syndrome is caused by a defect (mutation) in the gene that tells the body to make fibrillin-1, a protein that is an important part of the connective tissue. More information on Marfan Syndrome can be found at www.marfan.org.  This mutation causes different Marfan features and causes many medical problems. They diagnose clinically by seeing how many symptoms Claire has; some of her physical traits include a long skinny body, long arms and legs, flat feet, scoliosis, and flexible joints.  Unfortunately, the main issues are her heart and eyes!  We visited a Pediatric Cardiologist last week, and he confirmed without a doubt Claire has Marfan Syndrome!  Her Aortic Valve is three times the size of a normal child's, and will eventually need to be replaced.  She was put on Beta Blockers, as this will slow the progression of growth of the heart......the idea is to slow it as much as possible to be able to push surgery back until she is older.  With Dilated Aortic Root, the valve is extra large and the lining is very thin meaning that the possibility of it rupturing is great.  All contact sports, team sports, lifting, wrestling, and rough housing is a danger to her!   Any hit to her chest, could cause the valve to rupture.  Initially when we went into the appointment I told the doctor that we were on Concerta (ADD medicine) and to double check that that was OK to be on.....After the Echo of the heart, he did an EKG.  Unfortunately the findings there were even scarier....she has Prolonged QT Syndrome(not even related to the Marfan Syndrome).  The definition given by Wikipedia is a rare inborn heart condition in which delayed repolarization of the heart beat increases the risk of torsade de pointes, which may lead to palpations, fainting and sudden death due to ventricular fibrillation. Episodes may be provoked by various stimuli!  The Beta Blockers also help in this area to slow her pulse which will help with the intervals, while on meds the risks are reduced.  This syndrome requires that any over exertion of the heart must be stopped, such as running and swimming!!!  Well, if we had a calm princess, life would be easy to contain all of these activities.  Instead we have a little girl that wants to be a Power Ranger when she grows up........
How we go forward.....we continue with all of her therapies, Speech, OT and Physical; she takes heart meds for the rest of her life and no Concentration or ADD meds ever(any stimulants), we get her eyes tested and watch for any new symptoms, we have regular visits with the cardiologist, but most of all We Soldier ON!  Obviously, this is a huge blow for our family!  The boys have been hit hard with this news, as they love their sister dearly!  Hunter promised to quit all of his sports if it would help us get the best medicine for her, he sobbed for two days straight!  It is all very surreal....I never thought that I would need to send a message to the boys schools to keep an eye on them and make sure their home life did not effect their school life.   Initially I could not let her out of my sight, as I was/am scared of what might happen....I can not live that way and Claire is not the type of child to keep in a bubble!  We are now armed with knowledge, and have answers to questions that at times we thought might never come!  We will take everyday one day at a time, revel in the positive and find the strength to make it through the negative!  
I told my friend the other day that if only we could see the world through a child's eyes and not fear for what might happen! Claire lives life to the fullest and could not be happier...her strength gives me strength!
From the mouth of babes....
Claire and I were leaving her school the other day, after getting hit in the head with a block(like we needed anything else to add to our list), and I commented out loud "Claire, what am I going to do with you?" and she says most certainly "Look after me!"  Oh my baby, we will most definitely do that!!!