When Halle was born she went into almost immediate respiratory distress. She was rushed to Children’s Hospital from Woodwinds Hospital in an ambulance. It was unclear at the time why she was exhibiting these symptoms and was very close to not making it. Fast forward to a week later and we were finally leaving the NICU and she had made a remarkable turnaround. Halle was always very small but she was also still so new that we thought nothing of it. During her stay at Children’s they performed many genetic tests on her that take a month or more to get results back.
About a month later we saw that Halle was not growing as a normal baby would. She had gained almost no weight at all and got tired and disinterested when eating. We followed up with her pediatrician who referred us to a genetic doctor she had seen during her stay at Children’s. Coincidentally, the doctor at Children’s had just received the test results back from her stay that showed she has a mitochondrial disease (complex 1 deficiency). Halle’s specific gene mutation in relation to her disease is extremely rare, only one documented case EVER at the hospital. It makes it very hard for them to have literature on the disease or make a proper prognosis. This means that she will have a hard time gaining weight and maintaining energy levels, which explained why she got tired when she was eating and wasn’t getting much bigger. There are many other side effects and syndromes that come along with the mitochondrial disease (an umbrella term) but we didn’t look too much into them at the time because we didn’t want to freak ourselves out with something that didn’t apply to her. I read on a couple of them and a lot of them are very severe and can seriously compromise the quality of life and life span of a child. We knew these were possibilities for Halle in the future but chose to move forward with positivity.
Fast forward a month or so later and Halle is doing better. She’s not gaining weight like a normal baby but she’s gaining consistently and following her own growth curve which is what the doctors were hoping for. She is slow in developing her smile and movements but we attested that to her mitochondrial disease and the doctors told us to give her more time.
It was a Tuesday and Halle was with Grandma Deb and Auntie Heidi for the day. She started exhibiting concerning eye movements that coincided with her arms stiffening and moving inward. At first it didn’t seem like anything too concerning and then it started to happen more, and more intensely than it had before. Heidi told me about what was going on and I immediately knew that seizures were something the doctor had talked about possibly affecting her at some point because they can sometimes come with the mitochondrial disorder. I immediately called her genetic doctor at Children’s Hospital who wanted her to come in to the ER right away.
After getting admitted to the hospital and hooking her up to an EEG monitor they found that she has abnormal brain waves which explained the abnormal movements, they were infantile spasms (also known as West Syndrome) which is characteristic of the mitochondrial disease as well. As terrifying and saddening as it was to watch her have seizures, we were glad they got to the bottom of the issue so we could treat it early. The treatment however is intense. Two weeks of steroid injections into her leg muscle twice a day. The side effects of the medication are extremely unpleasant ranging from diarrhea and vomiting to irritability and a weakened immune system to name a few. This would mean we cannot spend the holidays with our family since she cannot be around anyone, especially kids. And we have close to 20 beautiful cousins that we love spend it with between both sides of our families. It was disappointing but a small price to pay if this treatment would be successful in treating the seizures so they wouldn’t come back again. The doctor told us with children that have an underlying cause for the infantile spasms (the mitochondrial disease) the chances of the treatment being effective were 50%. If this didn’t work there may be an option to repeat treatment but they can only do it twice and then we would have to explore other medications. The doctor prepared us for 2 weeks of hell with the impending side effects and having to inject our poor little peanut twice a day. The treatment is EXTREMELY expensive and takes days for insurance to approve. We moved forward with this. He told us the next step was an an MRI prior to starting the treatment to get a baseline of where things were at in her brain.
The MRI was meant to be a precursor to other treatment but instead we found another very serious issue. Dr. Smith said that had he not seen Halle prior to reading her MRI he would have thought she was brain dead, stopping breathing, or had a stroke based on how it looked. It showed that Halle has spots all over her brain. He couldn’t really tell us why it hasn’t affected her like this yet. It is called Leigh’s Syndrome and many other children with mitochondrial disease have it. It is the most severe and fatal syndrome associated with the mitochondrial disease. Most children with this syndrome won’t live past 1-4 years of age and have severe developmental delays and issues. The doctor prepared us for the fact that she will probably never crawl, walk, or maybe even talk. The disease is progressive which means it keeps getting worse over time. She also may not be able to tolerate eating so she may need a feeding tube and a wheelchair if she survives that long. This was absolutely devastating for us to hear and we didn’t hear most of it the first time because we were absolutely crushed and so sad.
Going forward there is no way to know what her timeframe will be or how things will progress. The doctor would like us to try and grieve now to prepare for what the future could bring. If there are other milestones that she does meet they will just be small victories along the way. A lot of times things will be good a while with this before it goes severely down hill once the parts of the brain start to die and it affects other organs.
Please keep us in your prayers as we move forward with this news and try to cope with this and our own emotions. We appreciate all of the prayers, love and support we have received. Our friends and family keep us going and give Halle so much love that we are blessed to have.
Halle has been doing the best we have ever seen her! She is starting to be awake SO much more and she wants to look around and explore her surroundings. Best of all, she is smiling so much more! Hans and I have been sitting her up more and she has been much more engaged. Even better news is that we haven’t seen a seizure in weeks! Before, she was having them daily. She is not done with the injection medication completely quite yet, she will be officially done Saturday. We aren’t doctors and haven’t had a test to see if the medication has worked based on the EEG but we are happy with what we have been observing. We couldn’t be more happy to be done giving her the injections and return to a more normal life where she can be around others and we can leave the house with her and have her big brother home with us!
I haven’t posted in a little while and I could say it’s for a lot of different reasons, but the truth is that I’ve just been having a very very hard time. Sometimes it’s difficult to know what to say or how to talk about it.I have always had an outgoing and bubbly personality, lately I have had fewer words.The magnitude of my emotions is harder to put into words.My emotions also change so frequently.
In trying to find this new balance of emotional strength and happiness, I am reminded by my partner every day how special and loved I am. Hans lifts me up and always puts me on a pedestal to our children and to others around us when talking about me. He never wants me to feel like I am not enough, and is diligent every day to give me undivided attention and love.
These situations and storms that we are put through are brutal. They test every bit of us down to our very core. But isn’t it so beautiful to have someone who sees you through your hardest times? Someone who sees you at your worst and wants to be next to you going through it all with you? God puts us through things for so many different reasons. And most of the time these reasons are not immediately apparent. But sometimes I think he puts us through these storms to show us all of the good in the world and in OUR worlds.
We are so grateful to have support and love from those around us and to have people who follow Halle’s journey and want to know how she’s doing. Thank you for your continued prayers for us, we feel the love and support in so many ways.
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