There is nothing that I can stress more when you are dealing with a sick or special needs child than the fact that if you feel that you have gotten terrible care or that the individual you met with did not answer all your questions - PLEASE get a Second Opinion.
Until I had a son that has had medical issues since day one, I had no idea how different and often times completely opposing views doctors and nurses would have as to what is considered appropriate care for my child. If you are new to the blog you might be shocked to hear we had an Orthopaedic Surgeon tell us that our son may not walk, a Neurologist who told us he was "fine" and a Pediatrician who missed a lot of signs of a serious issue for the first ten months of his life!
I am lucky to have had a nurse friend advise me on what to do when no one else was listening. So, if you are reading this because you have a sick child and no one listens... find someone who will. Since my son was born we have seen Nephrologists, Orthopaedic Surgeons, Neurosurgeons, Neurologists, Ophthalmologists, Cardiologists, a handful of Pediatricians, Orthotists, Physical Therapists, Occupational Therapists, Dieticians, and almost any other kind of "ist" there is out there. Once I finally got his first Pediatrician to admit that something was off with my child, there hasn't been a day that I haven't fought like hell to do everything that I can for him.
After my last post, we decided to travel to Iowa City to see another Nephrologist. She concurred that he does have abnormal kidneys but that the scans weren't exactly the best. It appeared that they are almost on top of one another, so she doesn't believe them to be horseshoe kidneys per se but said that there was flesh where there shouldn't be any and that they definitely aren't where they are supposed to be. So, she recommended that he get a nuclear test (Mag 3) to check his kidney function and to make sure that everything is working properly. They were going to try to schedule it the same day as his next MRI (in three weeks, eep!), so he only has to be sedated the one time. Sedating your child is risky and scary but sometimes it is a necessary evil.
In addition to the Nephrologist, we also managed to get the Sleep Study conducted over mother's day weekend. We took our own supplies and showed the sweet nurse how we prevented him from ripping off the sensors during his three day EEG. They managed to get the information they needed from the very little time that he slept (he woke every 60 minutes the entire night) but I am hoping that it is enough to show the Pulmonologist what is going on in Abram's sleep. We have already ruled out Aspiration but are still waiting to hear if he has sleep apnea or RLS before chalking his sleep issues 100% as an affect of his chromosomal disorder and the mass on his pineal gland.
The Geneticist also called back to report that Abram's test for Noonan Syndrome came back as "normal" but that the test only catches 60-70% of the cases so a normal result doesn't necessarily rule out Noonan Syndrome but it makes it less likely. That was a $4,700 test for a maybe? So, now we are still waiting on the results of my husbands blood work to see if he is a carrier of the Chromosome 7 Deletion. If he isn't, then they will be testing for Fragile X Syndrome.
We also have had a follow-up with our Neurologist who upon walking into our appointment was convinced that he would start medication for Abram's seizure-like activity but after seeing him and how much he'd improved socially and physically since our last meeting changed his mind entirely! That was a big relief. The less medicine the better because most anti-seizure medications make kiddos very sedate and his entire personality could change.
Next month is another huge month with appointments and follow-ups but I am hoping that July will bring fewer doctors appointments and more fun! This is officially Abram's third summer and I plan to make it the first memorable one for him. He deserves to be a kid. If the Fragile X comes back as "normal" too, I think we'll be taking a break from the hunt for a diagnosis or a name of a syndrome for our son's affliction. Life is too short to spend it in a waiting room!
I'm sitting here with tears rolling down my cheeks and I don't really know why. Well, I know why.. I have a hundred different reasons to cry but today it just seems like my seams are coming unstitched a bit.
Things have been hard since the moment Abram came into this world. I have been trying my hardest to handle the hurdles in our life with as much grace as possible but I have my moments (days, hours, seconds) of just sheer agony and a lot of weeping and then I feel guilty because so many other moms/families have it harder than we do. Yet then there is this anger.... resentment (?)... jealousy of the life that my little boy will never have. I try my hardest not to cry or feel sorry for my family and for my little boy but today is one of those days where I want to run outside and scream at the sky about how god damned unfair it all is and how angry I am.
Since my last post we saw an Orthopaedic Surgeon and Abram just underwent his second "high contrast" MRI yesterday. The Orthopaedic Surgeon informed us that Abram's Hypotonia is the result of nerve damage due to his difficult birth. We were informed that he may never walk and told us that we "could do Physical Therapy until we were blue in the face" and that it wouldn't make a difference. He told me that Abram's hypotonia has more to do with time and the nerves having to re-route themselves. I was heartbroken and left feeling defeated.
Abram will never know the difference in what he can and cannot do but as his mama it is painful to see other kids enjoying things while my little boy doesn't really seem to enjoy much. It hurts me to see that he doesn't take enjoyment in the things normal kids enjoy and it's hard to have play-dates when he cries at any high-pitched noise because it literally physically hurts him to hear them. I feel pretty alone and lost on the inside.
Most of Abram's days have been hard ones. This poor kid has never gotten a break. He has almost always been in pain and fussing. Only, the part that is the worst is that he can't tell me what hurts. He can't tell me what is bothering him. All he knows to do is to cry and to fuss and all that I know is there is nothing that I can do right now to make him more comfortable. He always seems to be hurting and I don't know how to help him or how to make it better.
There is no pill to make my kid feel better. There is no magic potion to help him with his Hypotonia. There is no cure for that god damned thing growing in his brain (other than the very dangerous and invasive brain surgery he will have to endure).
I am literally unable to do the one thing all moms are supposed to be able to do and that is to make my little baby boy feel better. So if you are reading this and you have a healthy child... be thankful. Rejoice in the fact that your child can walk, talk, run and play. Remember that when your child has the flu, a bad day or a toothache that those things will pass and most likely for you - tomorrow (or next week) will be a better day.
Right now, I guess I just feel lost. RIght now, I want to yell WHY ME?! WHY MY CHILD?!
But then I have to remember that somewhere.... someone doesn't have their son or daughter. I have to remember that even though things are hard that this life is a gift and I have to try to enjoy every single moment as much as I can. I have to remember that although Abram's life won't be easy.... that it's his life to live and I cannot and will not succumb to self pity and anger and regret for what could have been for him. These are the unfortunate cards my son has been given and we will overcome it or live with it. There is no other option.
I have my son. I have my family. I have my friends. I have an incredible support system and people that care. I have a lot to be thankful for. I also have the right to have a bad day. It's so hard to go through all of this without hitting an emotional bump in the road. For now... we wait for the results of that second MRI and hope for the best.
Hi! I'm Erin. I am a single mom, tireless advocate for UBE2a Deficiency Syndrome and a fierce proponent for medical cannabis.