Genetics and G Tube

Genetics

With Ellie's diagnosis of Moyamoya, we have always been told that there is only rarely a found genetic link to the disease.  After her first stroke we discussed the possibility of genetic testing but never followed through with it.  This time we decided if we were ever going to be interested in genetic testing that we should get it taken care of now.  We were told there were a few gene abnormalities that have been linked to Moyamoya but that less than 10% of patients with Moyamoya are found to have one of these abnormalities.  That most people with Moyamoya have no known cause for the disease.  We didn't expect to find a link but felt like testing was worthwhile for Ellie's sake and the sake of Payton and baby #3.

Ellie with her physical therapist

So we were shocked when the geneticists called to tell us that they had a "diagnosis" and wanted to meet with us to discuss it.  What they found is that Ellie inherited two abnormal copies of the gene GUCY 1A3 which has been linked to some cases of early onset severe Moyamoya disease, which is what Ellie has.  It is a very rare abnormality and is estimated that only about 10,000 people in the world have it.  In order to be affected you must receive a bad copy of the gene from both parents which through testing they could see that she received one bad copy from Charles and one from myself.  Charles and I are considered carriers because we each have a bad copy and a good copy that we could pass down, which also explains why neither of us are affected with the disease.  This means that Payton and baby #3 each have a 25% chance of having inherited it too.  We intend to get Payton tested soon.  Since early onset seems to be a common with these gene abnormality, that might be a good sign that Payton didn't inherit it.  

Ellie with her occupational therapists

We are still looking into and getting questions answered as to what this means for Ellie's health.  It does appear that it might explain Ellie's ongoing problems with high blood pressure since many people with this abnormality had problems with hypertension starting at an early age.  It also gives us some things to be on the look out for with Ellie's health.  In the only published study of the abnormality that exists, 100% of the subjects (there were only 9 people they could find to study!) developed achalasia by the age of 10.  Achalasia deals with the inability of the smooth muscles in the esophagus to open and close properly, causing swallowing problems.  Although Ellie has had some recent swallowing issues, her issues appear to be directly related to her stroke, but this is certainly something we need to be on the look out for.  Unfortunately the study of genetics is all so new that they really can't tell us exactly what this may mean for Ellie's health in the future.  

Ellie with her speech therapist

God works in mysterious ways and when we found out that we were pregnant and then a week later Ellie had her first stroke, we couldn't comprehend the timing of things.  Knowing what we know now about the chances of our children inheriting this horrible disease, we never would have allowed ourselves to have a third child and risk them being affected as well.  It would have felt completely selfish to conceive knowing these odds, even if the odds are that they have a 75% chance of being unaffected.  Not to mention, having two children one with serious health problems would certainly have felt like enough.  But God has a plan for this 3rd child and a plan for our family.  None of this is a surprise to Him.  When we were saying, "The timing of this is all wrong!"  He was saying, "No, you don't understand, the timing of this is exactly how it needs to be".

G Tube

Ellie continues to do really well, getting stronger and healthier each and every day.  After Ellie pulled her NG tube, once again, this weekend, the doctors and nurses here started talking to us about getting a G Tube placed before going home.  A G Tube is a feeding tube that goes directly into her stomach.  The G tube is much more convenient because it doesn't leave a tube hanging out her nose that she could pull.  And with the NG tube, there's always the concern that it might not be placed right and so any pulled tube at home would have resulted in a ER visit so it could be reinserted and an X-ray taken to check for placement.  So the G Tube sounds like a much better option for Ellie and for us.  Ellie is eating now without issue (although she only chews with the left side of her mouth) and is beginning to drink without aspiration.  The problem is that she is unable to drink the amount of fluids that would be recommended to help insure she doesn't have another stroke.  One theory as to why she had this massive stroke in the first place, despite a relatively healthy looking MRA the week before, is that she wasn't drinking enough and therefore the blood in her brain (being restricted already by the Moyamoya disease) wasn't able to flow properly. So there's no reason to risk another stroke due to her inability to drink the amount of fluids to keep her safe when we have other options.  Her neurosurgeon said in about a year, when an angiogram can show us that the revascularization has been successful and the new vessels are circulating the blood effectively, then at that time we can be less concerned about her fluid intake.  Also, hopefully by that time Ellie will have an understanding of negotiation such as, "Okay, if you want to go play outside I need you to first drink this cup of water".

Not at all happy with her new helmet

The G Tube surgery will be tomorrow morning.  It's a minor procedure but having Ellie go under anethesia is always scary so prayers would be much appreciated!  After surgery she should only have to stay one additional night which means hopefully we will be going home on Saturday.  Saturday is Ellie's 2nd birthday so it would be awesome if we could go home on that day.  We will have been here 2 full months.  We actually wonder if Ellie even remembers our Galveston home, because I know we barely do!  It's been a long journey but hopefully this will be it for our inpatient time at TCH.  We love the people here but we are ready to be back home again, together as a family of 4.

So worn out from her last morning of inpatient therapy that she fell asleep while eating lunch

Since we are in the process of being discharged from rehab, they printed out some paperwork for me.  Something about seeing all of Ellie's diagnosis' on paper feels especially heartbreaking.  I do believe these are all things that Ellie can overcome, it's just still sometimes unbelievable everything that she's had to go through and continues to go through.  It's tough to see your child go from being a completely normal toddler to having so many serious health issues.  And most of all, it's hard to watch your child be in pain and be unable to do anything about it.  Thankfully Ellie continues to improve and I pray one day this will all just be part of an amazing story that she has to tell.

And it continues on a second page with 1 more diagnosis