I am so sorry I havent updated Noahs Page recently. Things have been stressful, and each day seems to pass very quickly. I have a lot to update, but will try and keep this short. 1) Noah went to a Pulmonary appt on October 9th. He goes every 3-4 weeks. Dr. Bailey ( Noahs main pulmonary doctor) had obtained Noahs genetic testing results- he attempted to explain them to me, but my mind is still spinning. We will be seeing genetics On Nov 1 st. For further explanation . However, they did find a mutation. In a very important gene. While they have never seen this type of mutation before ( from what I understand) it plays a very important role and it makes perfect sense that it would have caused all Of the vascular abnormalities in Noahs lungs. They now need to run more tests to confirm this mutation and its importance. They do know this is not a benign mutation. This is the most formal thing we have had aside from the gross abnormalities on both biopsies and Noahs obvious symptoms. There still remains no treatment. Noah continues to decline. Both of Noahs diuretics had to be increased again at the appointment for worsening in his chronic pulmonary edema symptoms . It was last increased the beginning of August. We are running out of room to be able to increase these medications. They have sent the genetic results to the doctors currently consulting on his case in Texas and they are still awaiting their final opinion. I emailed again with the doctor in Colorado and her opinion remains that his best treatment option would be lung transplant and encouraged me to find a center willing to take the risk. She is very very well known in the childhood lung disease world. Along with Dr. Fan in Colorado, they all reviewed Noahs case in August. She had emailed me then and told me we would likely find a gene responsible, but it wouldnt help much and in their opinion transplant would provide the best possible prognosis. I dont understand it all yet. I dont know how he inherited this gene mutation. Though, I do carry some different kind of copy of the gene( not the same mutation or I would be affected). So, knowing this is something I may have caused, brings a bunch of Emotions. He has been sick all weekend. He continues to loose weight and be exhausted. He struggles to breathe everyday. It is hard to explain the mix of emotions I feel. As it is nice to somewhat have some sort of explanation for why this happened - an hopefully more of an understanding soon. There still is no treatment. So now the hope of finding that diagnosis with the perfect treatment is gone. The idea of him improving is gone. Though I always knew that was slim to none as he declines. 2) Noah went to GI Monday. Hes been vomiting a lot lately. Especially after being admitted with gastroenteritis last month. He has been on a slow decline with his weight in the past 1.5 months. He had gained a little back and is now down a lot again. He hasnt seen GI since before his tube was placed, but has been followed by nutrition in the pulmonary department. So the plan: they cultured his g tube site. He will do a gastric emptying study. He will go under anesthesia ( AGAIN) for endoscope with biopsies and placement of a PH probe to assess if he has developed significant acids reflux since the g tube was placed. There was discussion of changing his formula, again. She also mentioned the possibility of him needing a GJtube. So the J part of the tube would by pass his stomach and go directly into his jejunum hopefully stopping the vomiting. He is to compromised to be loosing weight. He also feels lousy most of the time, so anything I can do to improve this I will. He struggles enough as it is, never mind throwing up in his sleep (which happened yet again last night . Hes on a low rate of feed as it is, so that cant be adjusted any lower. We recently broke his overnight feeds up to 10 hours overnight at a lower rate and 5 hours during the day because of his breathing and symptoms of reflux. However, it hasnt helped much . Sorry for the delay in updates and the length of this one. Thanks for the continued support.
Posted on: Thu, 24 Oct 2013 02:01:32 +0000
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