I don't even know where to begin. Jayme, Faith and I left the house this morning at about 11:30am, headed down to Cedar Sinai Medical Center. Luckily we hit very little traffic and made it to our 1:00 appointment in perfect timing. They wasted no time getting us into a room, measuring and weighing Faith. Faith lost a few ounces, which I thought was a little odd, but the doctors didn't seem concerned. We were then moved to a different room where another Dr. spent about a half hour asking questions about Faiths history, what little we knew, and our assumptions about her foster care and birth mother, her physical and cognitive delays, her hyptonia and Sensory Processing Disorder.
She left the room and came back moments later with Dr. G. He proceeded to examine her, which she hated and screamed bloody murder when he even looked at her. After about 20 minutes of blood hurdling screams, Faith fell asleep on my shoulder.
The next hour was spent discussing what may or may not be wrong with her.
Words like:
Myopathy
Metabolic Disorder
Chromosomes
Array test
Fragile X
Autism
Prader Willis
MRI
Rhett Syndrome
etc, etc...
Dr. G. is a world renowned Dr. who specializes in Genetic cranial disorders amongst other genetic issues. He's seen many kids with Hyptonia, Sensory Processing Disorder and Developmental Delays, however, he stated that he has never seen a child like Faith that will not grasp anything with her hands. He, like us was totally perplexed.
She finally woke up and he got to see the happy side of Faith. Examined her a little further, which she didn't mind, and then arranged for some blood work. The lab took 6/7 vials of blood, once again our precious daughter screamed as we held her down, but calmed as soon as I picked her up. Glad that parts over.
Dr. G is testing her for some very specific disorders at first. He is testing her for 3/4 disorders that would cause hyptonia, although he feels she has no other systems that pertain to those disorders. He is also testing about a 1000 different chromosomes to see if there is any discrepancies. He believes that there is a 10/15% chance that any of those tests will be positive and a 50% chance that we may not ever get a diagnosis. Should the test come back negative then we will see him again in 6 months and do some further testing.
We finally left Cedar Sinai at about 4:00 and spent 2 hours in traffic trying to get home. It was a long day.
I am so very proud of Faith. She was a trooper.
This may very well be a process with no end in sight, but i know doing it will give me the peace of mind that I never gave up on my children.
I am a SAHM who has been married for 10 years. My husband and I have 4 children. Our youngest who we adopted from Guatemala. We have 4 dogs and a Poppy and hope to add another child to our family through adoption. This blog is about us.
8 comments:
Praying you get some answers soon! I know how hard it is to not know!! Cyber hugs coming to you and your little trooper!
Poor little Faith. I hope you get a diagnosis so you at least know where you have to go from there. It sounds like it was an exhausting day but it has got to be a great feeling knowing you are doing what you can for her. You're a great mom!
Oh my! What a day mama. I pray you get some answers soon.
I was having a little pity party for myself until I read that post - what a day! I pray that they are able to give you some useful info after all those tests - maybe just somthing that will help guide your decisions with therapy etc. God was so wise to give you Faith because you are an AMAZING mother for her!! Keep us posted~
Meghan
Good for you Suzanne. You are doing everything you can for little Faith. It must have been a very long day.
That is so great that you got Faith checked by the specialist. Sounds like a great Dr. I hope somehow that he is able to figure out what may be going on with Faith. I have to say that she is just so adorable!!!! Love the pics of your oldest on the boat- too cute:) Happy 8th birthday to her!!! That was my favorite age when I was little:) I know it must be tough at times to go through what you are going through. Isn't it great that we can all blog and have cyber friends to vent??? :)
Don't give up. My son was misdiagnosed for 7 years!!! He went from spending months each year in the hospital (with us by his side through it all), using a feeding tube since the day he was born, a walker, and struggling to get anywhere or do anything. He was diagnosed around his 7th birthday by yet another neurologist. ONce again, we said do what tests you need to...she is our miracle worker! She rediagnosed him, put him on medicine which he now takes 5 times a day. He is now 16 and a typical teen. He came home from the hospital without a walker and able to eat food by mouth. Truely a miracle.
Please email if you want. akingagain@yahoo.com
One diagnosis was as rare as the other. They did all sorts of genetic mapping and only recently have found the gene his disablitily is carried on.
Hang in there. Hopefully you don't have to wait 7 years to get your answer, but keep at it!
I don't even know which Guate Mama blog led me here but I just spent half an hour reading your journey from start to finish. Your daughter is beautiful and YOU are simply an amazing spirit. Hang in there...I'll be thinking of you all.
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