As usual, a lot to report since my last entry. Abram is finally pulling up to stand and "cruising" along furniture! It was such a huge deal to us and it made me cry to see how proud he was to be doing that!! The cat however, seems a bit disgusted that he's got a broader reach!
His Physical Therapist also got him to walk across our (yes, tiny) living room but the fact that she got him to 1) touch the rubbery handles and 2) "walk" using his posture trainer (picture a backward adult/elderly walker) in shiny gold! He screamed the entire time but he did it with the help Physical Therapy twice a week since last summer! I'd like to honestly have him "walk" into that Orthopaedic Surgeon's office and have him kick the guy in the shins for telling us that we could do PT until we were blue in the face and it wouldn't do a thing! We showed him! Go, Abe, Go!!
I'd also like to send a HUGE THANK YOU to the Rock Island District of the Army Corps of Engineers - where my father retired from and whose former co-workers were kind enough to send us a great donation that enabled us to pay for Abram's new glasses (coming soon!) and new shoes! Thank you so much for your kindness and generosity and for thinking of my son! It was so kind of you!
I'd also like to say thank you to the people who sent my family kind words after my Grandfather's passing. Lyle Fluckey was a great man and he will be missed by many. I'm just so glad that I got to give him a proper goodbye and he got to see Abram stand before he left this world! Such a great honor to have the chance to tell someone you love them one last time!
The Opthamalogist that we switched to turned out to be a great decision. Abram's old glasses had a prescription that was incorrect (too strong) and they check him and he does not have FEVR, which was a relief. His right eye is turning in but they feel that these glasses will help correct it and they gave us drops to put into his eyes so that they dilate enough to blur his vision so that he'll WANT to wear his glasses. I'm hoping that method works! With his Sensory issues, he tends to be very head/face sensitive and can't stand anything on his head! Drops however, are a much better suggestion that the suggestion that we got from our old Doctor who told us to duct tape magazines around his arms to restrict his movement! Um, no!!!
In addition - Abram's soft spot still has not closed up and is considered to be an "abnormal fontanelle" so on the recommendation of our PT we are going to see a cranio facial doctor next week to see if they can give us any suggestions as to why it isn't closed, if it ever will close and to get a second opinion as to whether or not putting a helmet on him to protect him would be a good idea as suggested by our Neurologist.
I think that about sums that stuff up!! Lots of appointments coming up/waiting to get scheduled and as per usual, I will update here when I can! Thanks for reading and thanks for caring. We love you!
The month of February has been an unkind one. As I am writing this I am waiting to go to my Grandfather's wake. Lyle passed away early Saturday morning in Hospice House and tomorrow is his funeral. Saturday also brought the sad news that my husband's cousin was murdered so he will be Pall Bearer in two funerals this week - both in SW Iowa.
Things with Abram seem to be progressing for him both with diagnoses and his abilities. He STOOD for the first time last Sunday and has been pulling to stand all over the house now which is amazing. Since he is hyper-mobile and he has hypotonia, his knees lock and his legs overextend so he has a really hard time getting back down unless he's on the couch where he knows he's got a cushy landing. He is also becoming more vocal and is saying 'ah ah' and 'mum'. He loves the sound of his own voice and is thrilled if he is anywhere it echoes. Haha.
We have also gotten to finally meet a Geneticist. I had no idea what to expect but it was a lot of information. He confirmed it is a rare case and didn't have much new news that we hadn't already learned from Unique. After them taking thirteen vials of blood out of my little baby, there are still a lot of other things to rule out including metabolic issues and two Syndromes that they are checking him for including Noonan Syndrome and Fragile X. So far all but two of the metabolic tests have come back abnormal but we are waiting on two more.... one for copper and one for a word that sounds like a sneeze. If both of those are negative they will test for Noonan's (a$1700test) and then on to Fragile X. After that.... I guess we just might not get an answer. Basically, whatever Abe goes through now is being followed by Genetics and Neurology so his case can help someone else in the future, so that's good.
The Geneticist told us the biggest concerns with this are Epilepsy, Heart Valve Defects, Kidney Issues and Bone Density Issues so now we are being scheduled for an echo cardiogram, a renal sonogram and a full body x-ray. In addition, having small stature is also a concern so if he has another dip in his growth chart he will need to see an Endocrinologist to get him on growth hormones. The Geneticist also said that he felt the pineal cyst is a separate issue than the genetic disorders and could not offer an answer or advice on why Abram's soft spot is open still at 19 months, mentioned hydrocephalus and asked if we'd been to a Neurologist! (sigh and ugh)
In addition, we had a check-up with our Neurologist who finally told us the results of the EEG which was disheartening. He said that he saw three spikes in Abram's 3day EEG in December indicating seizure activity but he doesn't feel comfortable in drugging him to prevent seizures at this point. He also admitted that he'd never heard of Abe's deletion and that he is learning from us.... that people will be helped by what we are discovering so at least maybe this journey won't be so hard for the next family.
The Neurologist feels that the soft spot issue, the cyst and all of Abe's other issues are attributed to something genetic while our geneticist feels that the cyst and soft spot are neurological and not related. I just want to scream! Alas, our Neuro is going to measure the open fontanelle with a head ultrasound once our Title 19 kicks in and then Abe will get his third follow up MRI to check for growth in that cyst.
Next up is the new Opthamalogist next week and just more waiting on more tests...... but regardless.... things are moving forward and my little man is gaining skills and brings me so much joy. I just hope that someday he can just be a little boy and not spending his days and weeks on a full schedule of appointments and therapies.
In other good news, Abram qualified for the ID Waiver... which means we can get in-home respite care with people we choose so we will finally have the much needed help we will need and when he turns two we will have a community service that will help teach him life skills and give me a break. The wait list is 2-3 months but once we get in and get an hours worth of respite care, Abe will get his Title 19 back which will help immensely with medical bills.
Well, that's all for now!!!! As always, thanks for reading and for caring. Your support means the world to us!
Hi! I'm Erin. I am a single mom, tireless advocate for UBE2a Deficiency Syndrome and a fierce proponent for medical cannabis.