Spoke to the geneticist today...he said both Wil and Joshua have medical conditions that have stumped the medical community. They possibly share a common problem, but Wil has his own unique issue (kinda).
Joshua--it is certain that Joshua has a partial disorder of MSUD. His body cannot adequately breakdown leucine and isoleucine, but he seems to not have an issue with valine. Leucine is the most dangerous...if he eats too much protein, leucine will accumulate in the blood and become toxic to his brain. Excess leucine is the cause of the maple syrup smell in their urine. They haven't caught abnormal levels in Wil's tests, yet...but because his urine does smell like maple syrup on occasion, they have not ruled out that he may have the partial MSUD, as well. The other problem with this disorder is that they (at least our doctors) don't know how to treat it. The geneticist does not think Josh will benefit from the medical foods for MSUD (they provide protein WITHOUT leucine, isoleucine, & valine). Our basic "orders" are to 1) avoid fasting, 2) take him to the hospital for glucose (MSUD) treatment if he has vomiting/diarrhea/signs of a crisis...and maintain a low to moderate protein diet. The praise is that it "appears" that this partial disorder is easier to manage than full MSUD...but we need prayer because the doctors are not confident in how to treat it.
Wil--his extensive genetic testing came back today. He apparently has a chromosome abnormality that has NEVER been reported in the history of medicine...he is the FIRST child/person on record!!! Because of this, there is no name for it...all we know is that he has at least 38 extra genes in chromosome 8...this may or may not be a cause for his delays (which may also have been caused by a partial MSUD). It turns out there is a SECOND person reported with the same genetic abnormality...after Wil's tests came back positive, mine and Billy's blood was tested and it turns out that Billy has the same abnormality!
Both kids will continue with genetic follow-ups. We are actually seeking a second opinion now that all the results are in. Pray for us because we expect to battle through the system...we are not satisfied with the answers...especially because they do not know how to treat the partial MSUD disorder, which could put our kids in danger. We have also experienced a lot of incompetence on Kaiser's part through this whole process.
Since the last tests, they do not believe that Fatty Acid Oxidation Disorder (FOD) is an issue any longer.
As for me and the pregnancy, we are doing much better! I started my 16th week today...I've been off bed-rest and have been taking care of the boys on my own!
Thank you for your prayers, uplifting emails/letters, and generosity to our family! We are eternally grateful!!
Blessings to you all,
Melissa & Family
Tuesday, March 17, 2009
Thursday, March 5, 2009
Baby sounds good, still no answers for the boys
I had my OB apt yesterday...I'M OFF BED-REST!!! I'm still not suppose to lift heavy things (ie, Joshua). They didn't do an ultrasound this time...just a doppler, but the baby's heartbeat was strong and at a normal rate!
I heard back from the geneticist this week...with no real answers, unfortunately. It appears some of the test results were different. What has been consistent is that Joshua is having issues with 2 of the 3 amino acids involved in MSUD...because all 3 do not appear to be involved, they don't call it MSUD. We have to make sure he doesn't fast...if he gets sick for any reason, we have to take him in to the hospital to have his amino/organic acids tested...and both boys will stay on a low-protein, low-fat diet...they will also go to the lab every few months to have their amino/organic acids tested. It looks like it will be a LONG time before we get a real answer...we will also be seeking a second opinion (possibly even a 3rd outside of Kaiser). Oh...and Wil's genetic testing is still not back, yet.
Pray for Billy today...he has his final presentation for one of his classes! At the completion of this class, he will be half-way through his Masters program (and hopefully getting a raise since he will have a Certificate in Systems Engineering).
Please also pray for my father...he has been so gracious helping me care for my boys...but lifting Joshua has really put him in a lot of pain (he's had back problems for several years).
I heard back from the geneticist this week...with no real answers, unfortunately. It appears some of the test results were different. What has been consistent is that Joshua is having issues with 2 of the 3 amino acids involved in MSUD...because all 3 do not appear to be involved, they don't call it MSUD. We have to make sure he doesn't fast...if he gets sick for any reason, we have to take him in to the hospital to have his amino/organic acids tested...and both boys will stay on a low-protein, low-fat diet...they will also go to the lab every few months to have their amino/organic acids tested. It looks like it will be a LONG time before we get a real answer...we will also be seeking a second opinion (possibly even a 3rd outside of Kaiser). Oh...and Wil's genetic testing is still not back, yet.
Pray for Billy today...he has his final presentation for one of his classes! At the completion of this class, he will be half-way through his Masters program (and hopefully getting a raise since he will have a Certificate in Systems Engineering).
Please also pray for my father...he has been so gracious helping me care for my boys...but lifting Joshua has really put him in a lot of pain (he's had back problems for several years).
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