Ambrose has had a very nice spring with lots of walks, playing, and of course endless cuddles.
He recently attended my ADN pinning ceremony and I think I can say he was the most popular person there. He got lots of attention from my fellow graduates.
Ambrose has been healthy! He continues to have issues with renal calcification and periods of hypokalemia, but they don't seem to effect him. He had a follow up ultrasound of his kidneys at the end of January, which showed no change since the previous one 6 months earlier. He has been on 2 diuretics to try to flush out the calcium he is retaining in his kidneys. They increased the diuretics to twice a day, which of course, caused his potassium level to drop. Many labs and dosage adjustements later, after his potassium level stabilized, they raised the diuretics again.
He has also started having more seizures after a long, relatively seizure free period. His Lamictal was increased, and the seizures increased along with it. He does his own thing.
Ambrose's GI doctor came to the conclusion, ongoing struggles with acid burns around his G-tube, that his stomach lining has grown up into the tract of the G-tube. When this happens, it does not have a tight fit and is very prone to leaking. The only solution is putting in a new hole. We are not pursuing that at this time. We attend to it many times a day, have tried many different ointments, and are right now trying "Tubie Woobies," cute fabric pads, made by a Mom of a child with a G-tube, to absorb drainage.
Ambrose lost his 7th tooth while at the dentist. (Unintentionally) He has 4 new ones coming in on the bottom, the middle two of which are very tiny, odd, and sharp. See below. (His lips are not always that dry).
Another interesting this that has happened was that we were contacted about a study at Alberta Children's hospital. They claim to have found the gene that causes Taybi-Linder syndrome. DHMC stored cord blood on both Sophia and Ambrose. We consented to the study and the result was that he did not have the gene. They still feel that he has Taybi-Linder and I learned that sometimes there can be more than one gene that causes the same syndrome. A couple of months later I was contacted again. It seems that this study also fould another family who has had two children (unfortunately both of whom have passed away) who had Taybi-Linder and also tested negative for the gene, and another family who lost one child and is pregnant with another affected child. They wanted permission to do a more in depth genome analysis to try to find the other gene. I said," fine, but most importantly, how can you get me in touch with these other parents?" I have never had contact with anyone else with children with Taybi-Linder. I asked her to pass along my contact information and this blog address to those parents. I am so hoping they will contact me.
I was also contacted by a lovely oyung woman in Paris who was pregnant with a son who was identified as having some kind of genetic syndrome. In researching online, she came across this blog. She said it inspired her to see how happy and loved Ambrose is. Her son was born and is doing well. He does not have Taybi-Linder syndrome. :)
He recently attended my ADN pinning ceremony and I think I can say he was the most popular person there. He got lots of attention from my fellow graduates.
Ambrose has been healthy! He continues to have issues with renal calcification and periods of hypokalemia, but they don't seem to effect him. He had a follow up ultrasound of his kidneys at the end of January, which showed no change since the previous one 6 months earlier. He has been on 2 diuretics to try to flush out the calcium he is retaining in his kidneys. They increased the diuretics to twice a day, which of course, caused his potassium level to drop. Many labs and dosage adjustements later, after his potassium level stabilized, they raised the diuretics again.
He has also started having more seizures after a long, relatively seizure free period. His Lamictal was increased, and the seizures increased along with it. He does his own thing.
Ambrose's GI doctor came to the conclusion, ongoing struggles with acid burns around his G-tube, that his stomach lining has grown up into the tract of the G-tube. When this happens, it does not have a tight fit and is very prone to leaking. The only solution is putting in a new hole. We are not pursuing that at this time. We attend to it many times a day, have tried many different ointments, and are right now trying "Tubie Woobies," cute fabric pads, made by a Mom of a child with a G-tube, to absorb drainage.
Ambrose lost his 7th tooth while at the dentist. (Unintentionally) He has 4 new ones coming in on the bottom, the middle two of which are very tiny, odd, and sharp. See below. (His lips are not always that dry).
Another interesting this that has happened was that we were contacted about a study at Alberta Children's hospital. They claim to have found the gene that causes Taybi-Linder syndrome. DHMC stored cord blood on both Sophia and Ambrose. We consented to the study and the result was that he did not have the gene. They still feel that he has Taybi-Linder and I learned that sometimes there can be more than one gene that causes the same syndrome. A couple of months later I was contacted again. It seems that this study also fould another family who has had two children (unfortunately both of whom have passed away) who had Taybi-Linder and also tested negative for the gene, and another family who lost one child and is pregnant with another affected child. They wanted permission to do a more in depth genome analysis to try to find the other gene. I said," fine, but most importantly, how can you get me in touch with these other parents?" I have never had contact with anyone else with children with Taybi-Linder. I asked her to pass along my contact information and this blog address to those parents. I am so hoping they will contact me.
I was also contacted by a lovely oyung woman in Paris who was pregnant with a son who was identified as having some kind of genetic syndrome. In researching online, she came across this blog. She said it inspired her to see how happy and loved Ambrose is. Her son was born and is doing well. He does not have Taybi-Linder syndrome. :)
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