Our First Fragile X Clinic

We have spent the past 2 days up in Baltimore at the Kennedy Krieger Institute. The National Fragile X foundation created a consortium of clinics where a Fragile X Neurological expert heads the program and has several multidisciplinary services to help review patients. Some of the clinics actually do their own research as well. Kennedy Krieger is one of the top 3 in the country, there are only 12, so we're very blessed to have this opportunity only 75 minutes away. Many families fly all over the country for these programs. Hubby and I are thrilled with the head doctor. He's the neurologist and extremely knowledgeable, very plugged into the FX community and also does extensive research for FX.

Monday was the first day of the clinic. With many prayers, Jimmo slept thru the night for a full 9 1/2 hours. That's very good for our little man, so we knew he would be rested and ready to perform. The first appointment was with the Neuropsychologist. This portion of the clinic was about 3 hours and they performed the Bayley test, which we've done many times in the past. It's basically a standardized test that tells you where the child falls cognitively with language, visual and adaptive skills. Our only concern with the clinic was this particular appointment. All four of us (mom, dad, little man and Neuropsychologist) were stuffed in this small little hot room for 3 hours. Little man, and probably a lot of 2 year olds, are not happy with small rooms, warm rooms or crowded rooms, so we knew that performance would not be his best. In past tests, the administrator of the test let us use his familiar toys and he scored much better. In this instance they wanted to use their standardized tan cups, spoon, small car and blocks. Every institution has different protocol so we knew his results would be lower. After this appointment we were done for the day. We were home around 2 and picked up the princess at our neighbors house. Our neighbor has two older boys, so enjoyed the girl time and Georgia had a blast! After dinner, hubby brought princess down to our good friends in the south - that is what the Northern Virginians call Dumfries. ;0) She was so estatic to spend this time with her buddy. She was talking about this sleepover for about a week!

The next morning, great sleeping again for little man, the remainder of the family left for Kennedy Krieger about 6:45AM. We began our morning with our Speech appointment. She was outstanding, both Hubby and I really enjoyed our time with her. She was extremely patient with little man and knew how to keep things low key and calm for optimal performance. Along with testing for speech, she completed the ADOS test, which is a standardized testing for Autism. Quick review - Fragile X boys usually show Autism like characteristics. Some Fragile X (FXS) kids have an additional diagnosis of autism, but not all. But FXS is the most common known cause of Autism. Little man did great with this session and played well with the speech therapist. We then had an extended break for lunch. We ventured to a park and played and found the yummy pizza joint the clinic suggested for lunch.

Our next appointment was with the Psychiatrist. The clinic was running behind at this point, so little man was getting tired. He pulled thru and did some interactive play for him. This appointment is for discussions regarding behavior issues, social interaction and pharmacologic intervention. At this point, we have not seen any behavior issues in little man. Although this is a significant part of Fragile X boys, so we continue to not be naive to this matter. This is the place we also discussed his sleep issues. The doctor suggested using 1mg of Melatonin. We've been researching this since it's a natural hormone. We're visiting with our homeopathic doctor in a few weeks so we'll discuss with him again.

And finally we met with the head doctor of the clinic who is the Neurologist. As mentioned above, this doctor is the reason we come to Kennedy Krieger. He has the perspective of studying the rats in the research lab as well as the patients in the clinic. Hubby and him discussed extensively the hope of getting more funding thru congress for research. Last week was National Fragile X Advocacy day on capital hill. Both hubby and this doctor participated and we anticipate more partnering down the road. This appointment is where we discussed genetic questions, medical condition concerns, joint laxity, reflexes and any other Fragile X Concerns. At this point it was 2:45 and little man was just begging for a nap. So as the appointment wrapped up, I took him out to the car and Hubby finished up with the parent questions. After one lap around the parking lot he was snoring. I parked in a spot far enough from the general parking area and after Hubby finished up with the doctor we sat out on a blanket for the next 75 minutes while little man snoozed. Thank goodness for those 65 degree days in March!

So finally it was the last appointment which was the summary panel of all the doctors we visited with. The reason this clinic is so significant, is two fold. First - these doctors see other Fragile X children so they are able to compare skills, temperaments and medical conditions. And they're obviously the most educated on Fragile X. It's so nice to sit across from a doctor and not here the normal - Fragile What? Second - these appointments are now a benchmark of comparison for little man's future visits. This clinic will become the most significant professional help we get for little mandevery 12-15 months for the rest of his life most likely.

But as for the results......between the Neuropychologist and the speech therapist, they ranged his language skills, visual skills, adaptive skills, receptive language and expressive language anywhere from 9-12 months. This is slightly lower then we and other therapists have characterized, but we have to take the environment into consideration. As for the Autism diagnosis, they were concerned that Jimmo doesn't point to objects yet, but overall his motor development is low, so this is somewhat expected. His eye contact and interaction is great. But because of the pointing, they simply placed him on the Autism Spectrum Disorder (ASD) but without an official Autism diagnosis. This placement on the spectrum will actually benefit him at preschool next year, enabling more services. The speech therapist also encouraged us to continue with our picture communication system we currently use around the house. And an optional 4 week PECS class was offered to help me understand the "official" functional communication system and implement this into all facets of little mans life besides just at home. As for the Neurologist and the Psychiatrist, they emphasized their concerned of his motor function skills. He's delayed more then most boys who have Fragile X. He said it was uncommon but not unique. He also said that between the age of 2 and 3, there often is a boost, so perhaps we're just around the corner. So in order to help this along, we're adding to our current repertoire of therapy with some private therapy. We'll go back and visit with the head Neurologist again in 6 months to check on his progress. And then again in a year for the full clinic. I should also include that most Fragile X kids are diagnosed at ages 4 or 5. So the comparison model for a 2 year old is much smaller of a "database" then for 4 or 5 year olds. And the OT component was absent from the clinic, so we'll be going back up again for that piece in a few weeks.....lots of trips to Baltimore....all great stuff! And finally we discussed education. The panel highly recommended a 5 day week program for the fall to add a consistent program with therapy included. This broke Mama's heart as I was really hoping for 3 days, but knowing it's best, I'll try and get over my attachment issues.

We left Baltimore around 6:30 and after picking up the princess at our friends house, who were so incredibly flexible with our delayed evening, the entire family was fast asleep by 9pm! Overall we're very pleased with the clinic and excited to work hard over these next 6 months! Thank you all for your prayers over these past few days, we are truly blessed.

Although this was a lengthy blog, these types are the reason for our blog. The family entertainment is sprinkled in between for fun! Come back and visit us soon!