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

Stronger Every Day!

A week or so after Ellie's second brain surgery, her neurosurgeon said to me, "If we can just get her 6 weeks out from surgery, we should be good".  What he meant by this is that at 6 weeks out from surgery with Ellie's first brain surgery, they could already see the new vessels in her brain "thickening" which means they were starting to transport blood.  Since Ellie continued to have strokes the week prior to surgery, we were very unsure if the strokes would continue after surgery or not.  Surgery itself shouldn't necessarily stop the strokes right away since it takes weeks to months for the new vessels to start transporting blood.  And while our neurosurgeons could tell us, "We aren't sure why it happens this way but patients who are having repeated TIAs (mini-strokes) prior to surgery seem to stop having them after surgery".  But since Ellie was the only patient they have ever seen to have multiple actual strokes leading up to surgery, they could offer us know guarantees as to how she would fair after surgery.

But here we are, 6 weeks after surgery without another stroke!  She also has not had any seizures since surgery either.  God is so good!  I have no doubt that it is through the prayers being sent up by so many that allowed the strokes and seizures to stop.

We won't know for sure how successful the surgery is until 6 months or so from now when they perform another MRA on her to see and really we probably won't get a very accurate idea until possibly a year or so from now when an angiogram can be performed to look at her brain.  But, as long as she continues to not have another stroke, we can assume the surgeries were a success.  Although Ellie will always be at a higher risk of stroke than the general public, successful revascularization surgeries can significantly reduce her life time risk of having another stroke.

No more PICC line!

In addition to making it to this extremely important milestone, yesterday afternoon we had our pre-discharge family conference with Ellie's therapists, doctors, social worker, etc.  Ellie is still set to go home November 19, which is next Wednesday.  We have been here for over 7 weeks now and we are definitely looking forward to going home!  In the conference, each one of Ellie's therapists updated on the progress she is making.  

In physical therapy, Ellie is now walking with only trunk stabilization assistance and is beginning to be able to walk with one handed assistance.  Right now she can take a few steps with one handed assistance and her physical therapists (Robin) hopes that by the time she goes home she will be able to walk up to 50 feet with only one handed assistance.  Ellie can also stand on her own for limited periods of time while holding onto an object for stabilization and can stand independently for a few seconds at a time.  With a little help she can bend down to pick up objects and then stand back up.  Robin reports that when evaluating her physical milestones, Ellie's abilities fall in the range of anywhere between what a 10-16 month old can do.  I think the last time I posted as to where Ellie was at with her developmental milestones I had estimated she was at about what an average 6 month old could do, and now I completely agree with Robin in that I would estimate her abilities to be about that of a 12 months old.  So she is progressing quickly!  Ellie was measured for a helmet that we should receive early next week to help protect her head as she continues to become more mobile.

Ellie's occupational therapists, Alli and Kristin, report that although Ellie doesn't have any functional use of her right hand/arm, they are noticing an increased awareness of that hand.  They notice that she will use her good hand to pick up and move her weak hand.  This is especially noticeable when Ellie grabs her weak hand and then brings it to her mouth to chew on.  Ellie, who was right handed before this, has shown a great increase in her abilities to perform tasks with her left hand.  It's not by choice, but she is going to be a lefty and she's doing just fine in learning to use the good hand that she has.

With speech therapy, Ellie has yet to begin talking again or making sounds on command.  She did this week learn to buzz her tongue which she has been doing all the time now.  Also with speech we are trying to encourage her to communicate non-verbally.  The other day we took Ellie and Payton to ride up and down on the hospital escalator.  Ellie was very excited about this so when we told to wave, she waved to us.  We haven't gotten a wave out of her since, except when taking her back to the escalators.  This is the first non-verbal gesture we have accomplished with her.  Her speech therapist, Jean, reports that she's seen a big increase in Ellie's ability to follow basic directions and some success in matching up pictures with a simple three piece puzzle.  

Speech therapists also work with children on eating and drinking issues.  Jean commented on Ellie's absolute refusal to drink.  From there we talked about how Ellie is more than likely going to be going home on her feeding tube and so Charles and I will receive the proper training on the use of it.  We were very much hoping she wouldn't need the feeding tube by discharge but at this time that doesn't appear to be the reality of the situation.  Not getting enough fluids can put a person with moyamoya at an increased risk of stroke and that is certainly not something we want to risk.  Not to mention without the NG tube she would need to be able to take her medications by mouth.  They are, however, planning a 24 hour trial of no fluids through the NG tube to see if Ellie will drink if she gets thirsty enough.  And next Tuesday they will do another swallow study on Ellie to see if she is continuing to aspirate thin liquids.  With the swallow study they have Ellie swallow barium and then use x-ray to see if that barium goes to her stomach or to her wind pipe.  In the out patient rehab program there is a therapist who specializes in feeding issues and so they will recommend we get some sessions with her to work on getting Ellie off of the feeding tube.  Ellie also should be receiving an audiology exam in the next day or two to make sure that a hearing deficit isn't contributing to her speech problems.

When it comes to out patient therapy, Texas Children's Clear Lake clinic doesn't have openings right now so it looks like at least initially we will be driving here several times a week.  They are still finalizing her out patient schedule but each week she will receive 2 PT sessions, 2 OT sessions, and 3 speech sessions.  Her case worker said, "She will also need followup appointments with neurosurgery, neurology, nephrology, genetics, rehabilitation, nutritionists, her pediatrician....."  There were several other doctors she listed us following up with but I just can't remember them all!  I just laughed when she read off the list of followup appointments, as did a couple of her therapists.  The way it's sounding, I think we need an apartment near TCH because even though we'll be out patient we will still be here constantly! lol  

The motto of the inpatient rehabilitation unit is "Stronger Every Day" and that's what Ellie is doing.  She is getting stronger each and every day.  It's amazing to look back and see how far she has come in the past 7 weeks.  I remember lying next to her in her ICU bed, her eyes unfocused, constantly darting to the side, her inability to move, to comprehend, to communicate.....  I couldn't help but wonder if she would always be like that.  Would she be like a vegetable?  Would she even survive all of this?  And now here she is--- constantly wanting to walk and play and laugh!  Her therapists are always saying things like, "She remembers everything!  She's so smart!"  We are so very blessed!

And blessed with big sister "Super Payton" too!

A HUGE thank you! And an update.

I don't know how to even begin to say thank you to those who have donated to the fund raising effort taking place for Ellie.  "Thank you" in itself seems inadequate but I will say it anyway, thank you all so very much!  Charles and I have been blown away by the support we continue to receive through all of this.  

A special thank you to our friend Julie Romano for setting up the website http://gfwd.at/1rDJjF2, updating the website, and heading up the fund raiser.  Many others offered to do the same for us and we are very appreciative for all the offers to help our family financially.  Our sweet friends the Romanos know all too well what it is like to have a sick child at Texas Children's Hospital.  Their son Johnny was diagnosed with leukemia when he was 7 year old.  In 2008 Johnny relapsed and spent 120+ consecutive days in Texas Children's Hospital.  We prayed hard for Johnny after his relapse and his story weighed heavy on our hearts. 

Then in September of 2008, while Johnny was in TCH battling the cancer, Hurricane Ike hit, devastating Galveston.  We evacuated to my parent's house where Charles and I spent almost 2 weeks living in a travel trailer with our 2 dogs and 2 cats.  Eventually Charles came back to stay with friends in League City so that he could return to work, but the city of Galveston wouldn't let the residents return home.  A couple times they announced they would let residents return home and would let people on for a few hours during the morning but then would shut the island down again, stating it just wasn't safe enough to continue allowing people to return.  I missed those opportunities to return home so when they again announced they would allow residents to return home, I decided I needed to be there at 7 a.m. to make sure I was allowed onto the island.  

The evening before returning home I read an update online stating that Johnny wasn't doing well and that they weren't sure he would make it.  Because I was planning to leave at 3 a.m. to return home, I stayed up all night praying for Johnny and his family.  I remember the drive home so clearly, praying over and over again for Johnny and his family.  I knew the majority of those on the island had lost everything they owned and yet those possessions paled in comparison to Johnny's precious life and what his family was going through.  Johnny entered heaven on that day.  My prayers remain with the Romano family as I know the pain of their loss will always be there.

The Romanos have been such a blessing to so many people following Johnny's passing, raising thousands of dollars for pediatric cancer research.  And now they are a blessing to us in our time of need, as are so many others who have continued to support our family through all of this.

It was a difficult decision for Charles and I to accept financial help.  We very much wanted to handle everything on our own, despite numerous offers that family and friends made to help.  And even with us saying, "There's nothing we need but prayers" there were people who quietly helped us out anyway.  Ultimately we came to realize that if we want Ellie to continue to get the care she needs going home from the hospital and especially into the next calendar year, then we needed to allow others to help us.  And we are so grateful to everyone who has donated, helped get Ellie's story out there for others to see, and for those who continue to pray for Ellie's healing.  Thank you, thank you, thank you!!!

And now for an update on how Ellie is doing:

Today marks 6 weeks since her stroke.  Since my update last week, Ellie has made some pretty major improvements.  My last blog entry focused on her therapists reporting that they felt at a stand-still with her therapy because she wasn't showing any initiative to attempt to do things on her own.  Well, without the help of the medications that were discussed, Ellie has suddenly started to show a great deal of initiative.  In fact, she is down right insistent on doing the things that she wants to do.  

She is no longer satisfied to just sit still.  She is constantly rolling, trying to sit herself up from a lying position, trying to pull up to a stand (she can't yet but she sure tries), and playing appropriately with all kinds of toys.  Once you help her to a standing position she is ready to walk to wherever it is she thinks she needs to go.  She can't stand or walk independently but by the way she tries to take off, she seems to think she can. Her right leg continues to grow stronger and she can move it in a walking motion as long as she has someone holding her up for balance and support.  It's actually a constant, exhausting job to keep her from injuring herself at this point and yet it's a wonderful thing to see her wanting to do the things she used to do.  I'm flat out breaking my back (it doesn't help that I'm pregnant) trying to help her stand and walk all the time and yet I am thrilled to do it because I can see how much she is improving and I want to encourage her to walk. 

Although she still has no speech, her understanding of what we are telling her has improved a great deal.  She now follows simple directions like, "Put the toys in the box", "Build a tower with the blocks", and "Can you give me that?"  If you show her a ball and a car and say, "Which one is the ball?" she is likely to grab the appropriate item.  She also has regained an opinion as to what she does and doesn't want to do.  Yesterday I was pushing her in a little pink car when she saw a tricycle that she wanted to ride.  She threw the biggest fit until we agreed to let her ride it, even though it meant she had to do her speech therapy while on the tricycle.  

Every day they give Ellie a few sips of water and with each sip she coughs and sometimes chokes.  And she has decided she wants nothing to do with thickened liquids.  Which means she is stuck with the NG Tube for now.  She has improved with being able to eat solid foods.  At first I didn't understand how she could handle solid foods but not something as easy to swallow as water.  Her speech therapist explained to me that with solid foods or even thickened liquids, the food/liquid stays in your mouth with enough time to send your brain the signal of "Okay, we've got something that needs to be swallowed, here it comes".  But with thin liquids, they can just slip down into her airways before her brain can register that she needs to swallow.  The NG tube has obviously been a life saver for Ellie but at the same time it's a royal pain in the butt, so we are really hoping her swallowing improves in the next two weeks so that she doesn't have to go home with it. 

Last Friday was Halloween and although we would have preferred to be home with our girls celebrating a "normal" Halloween, the people at TCH and the volunteers here made it a fun day for us.  Before Ellie's stroke I had already ordered the girl's costumes.  Payton insisted that she dress as Jake from the Disney Junior show Jake and the Neverland Pirates and that Ellie would dress as Izzy, Jake's sidekick.  Then a couple weeks ago the costume store Spirit of Halloween hosted a party here at TCH where they let every child pick out a costume.  Ellie didn't attend the party so Payton picked out both of their costumes.  She said she wanted to be a princess and Ellie wanted to be a "bad witch".  The toddler witch costume was really cute so we went with her suggestion.

Halloween morning I put Ellie in her Izzy the Pirate costume.  The therapists were all dressed up for morning therapy sessions and so were most of the kids so it was very fun.  Everyone commented on Ellie's costume which she looked adorable in.  During lunch Ellie got food on her costume and before nap I realized her costume already had a large rip in it.  So it was a good thing she had a backup costume.  That evening I dressed Ellie up as the "bad witch" and we went downstairs to the Halloween carnival.  Ellie surprised us by understanding all the little carnival type games and playing them.  She sat in her little pink car and she could play games like beanbag toss by us getting her close enough to the hole to drop the beanbag into it.  She loved it and got all kinds of fun little toys!

Ellie has come a long way in the 6 weeks since her stroke and with each new skills she regains we are beyond thrilled.  Thank you all for the continued prayers and support!  I'm sure I've said this more than once but we are very thankful for all of you!