Andrew has Duchenne Muscular Dystrophy. It's the diagnosis we've been dreading. There is no easy, no sugary way to explain the disease other than to just be blunt about it. So here goes - My sweet baby boy has an incurable terminal disease.
Duchenne Muscular Dystrophy (DMD) is a rapidly progressing degenerative nueromuscular disease. It begins in the hips/pelvis, upper arms, and upper legs eventually spreading out to all the skeletal muscles in the body. There is currently no cure.
DMD is usually inherited from the mother but I don't have any family history of it, that I know of. Andrew may be one of the rare little boys who are born with disease due to a random mutation in his genes where the protein dystrophen is supposed to be made. Andrew instead produces no dystrophen. What this means is that his body cannot hold on to his muscles and as the disease sets in, his muscles will waste away and he will lose all motor function. The muscle that remains will pull back away from his joints and cause painful contractures. This is a disease that comes with years of suffering. Most of the time, a little boy doesn't exhibit symptoms until he is around 4 so in a way, we are lucky ~ we have more time than most parents to prepare for the changes and challenges that DMD will bring. We know that we have to stay vigilant with his PT to get him up and walking so that he can hang on to his mobility for as long as he possibly can. Little is fighting SO hard to learn to crawl and walk but all of his progress will one day be taken back away from him - most DMD boys are in a wheelchair by the age of 12.
This disease spreads to the heart and respiratory system causing heart failure and the need for an eventual trach/ventilator to help with breathing Like all other DMD boys, the day will come that Andrew succumbs to it's complications. Yes, this disease will kill him. Most DMD victims die before their 25th birthday due to respiratory or heart failure.
As of right now, today - Andrew is the same happy little angel that he was 10 minutes before the phone call. He'll still be this way tomorrow, and the day after. In fact, he pushed himself up to standing today using his step stool and the side of the couch! This isn't an overnight tragedy for us all, we do have time. We cannot let this diagnosis ruin what Andrew has going right now. As for today, all that has changed is a medical record. I am not saying that we are not devastated. I am not telling you not be devastated. Grieving is a part of facing this new life - I spent half of the night we got the call crying and the other half laughing. It will be a very hard journey for the 25 or so years filled with ups and downs, joys and heartbreak. And bare with me as I will have posts on here that are sad, angry, and lost from time to time. But I will also have posts praising God for the little boy He chose to give me and posts of joy over Andrew's ..........oh, everything!
We ask all of you for your continued prayers. And maybe one day, those research scientists at the Washington Center for Muscle Biology will find a cure or gene therapy (AHEM, Uncle Danny.....) in Andrew's lifetime and he'll get to be an 87 yr old man someday. Unfortunately at this time, they don't have "anything good for anything other than a sick rat" according to my uncle. But for right now, I'm going to say a prayer of thanks bc, as his Attending during our stay at VCH 3 weeks ago said' "He's here now - and he's happy".
which is the turn around time for the Duchenne/Becker test at Emory. DocGen ought to be calling us any time now. My heart skips a beat when the phone rings, has been for 2 days now. If he doesn't call today, at least I'll have the weekend to chill out about it til he gets back to the office on Monday. Lord, please don't let my baby have this horrific disease.
So on a different note, Little got his legs underneath himself yesterday all on his own!!!!!!!!!!! He's not quite pulling up to standing, it's more of a "lay on my face while I get my legs straightened out and my butt up in the air" type move. Super exciting, though! He did it last night at a friend's house so I had her video it. While she was recording, Little decided to keep on moving! So here it is and just ignore the lovely angle of me that is in the video.
Andrew is officially crawling now! He's done it at least once per day for the past week, minus the weekend in the hospital, all on his own. I don't beg him to, I don't put him on all fours, I don't help him along - he's finally just decided to try it all on his own. His shoulders have gotten stronger and he's feeling more comfortable with it so he crawls short distances a few times a day. He is also starting to pull himself up to what his PT calls "tall kneeling" *see video* so I've had to start baby proofing! I remember a coworker of Mister's saying to us once how frusterating it will be to have to babyproof everything. I told him that I would thrilled if the day ever came that I had to buy cabinet locks and corner guards - well..............
Andrew spent the weekend in VCH's NICU as most of you know. I thought I'd give the longer story here.
Thursday was his appt with the Geneticist (DocGenes), the Urologist (DocPecker - yeah I did), and his Echo. DocPecker was first and he said he didn't think Little needs surgery yet bc if he does have a hernia, it is too small to feel. So that was good news. Next came his ECG - we were told he was having an EKG but he ended up having an Echo instead.
He pretty much rocked it. He just played with toys or with Sam and let the Echo lady do her thing. We didn't get the results until Friday, and they showed nothing but a perfect little heart!
Last was our consult with DocGenes. It took 2.5 hours, one of which was us just waiting in the room between docs. But first the research/clue finder/diagram drawing lady and her intern came in and asked us about family history about genetic diseases. We don't have any. None. So we were left wondering if we were wasting these doctors' time for an hour before DocGenes came in. We weren't, unfortunately. DocGenes came in and rattled off a list of things he wanted to test for; myopathies, glucose and glycogen build ups, metabolic disorders, to name a few. He sent us to the lab for bloodwork and said he'd get with us next week on what he found. So when the VCH phone number popped up on the phone later that night, my heart stopped. DocGenes informed us that he was "quite concerned about his liver". His liver?! Since when are we concerned about his liver? He has muscle weakness, not organ weakness! Or so we had ignorantly thought. Andrew's AST and ALT enzymes were elevated. Quite elevated. DocGenes told us that he was going to consult with a pediatric genetic gastroenterologist (say that 5 times fast) and get back with us in the morning. He told us that he didn't feel it was anything emergent, but that we would probably start a new round of liver tests the following week. It just came as such a shock. Mister and I kept repeating "liver damage? seriously?!" to each other for the rest of the night.
Well the next morning (Friday) DocGenes called us at 7:30 and said Little's cpk count had almost doubled since the check DocNeuro had done 2 weeks prior. He was afraid Little's kidneys could become damaged and said 9 words that strike absolute fear into a parent's heart: "How fast can you bring him into our ER?" sonofabeesting. He told us Andrew would be admitted for at least the night to monitor his kidneys and test his liver further. We packed a bag, bought a pack of diapers, and headed back to Nashville. It was a near silent drive.
Once we arrived, we were given a room and they began tests. The 1st was urine - they said they were going to cath him and I joked they could just graba cup and wait 30 seconds. To the the nurse brought out this crazy bag with adhesive around the opening and said if I really thought he'd go that quickly that they could try the bag. **So if you have a baby boy and a nurse says she needs to cath him for a sample, ask for the bag!** Sure enough, he whizzed almost instantly. Next cam the 1st of many many many many many blood draws. Nurse really had to fish for a vein and it was just awful. She filled 6 different vials. Once the iv was in place, we were left alone for a bit so he could have a break and some breakfast.
The next test was an ultrasound of his abdomin, liver, kidneys, and spleen. It took 45 minutes because Andrew wouldn't stay still and screamed a lot. He was also hard to image because "he is very gassy"! Haha! All of those organs looked absolutely fine, too. So far so good! Seems to be muscle damage but not organ damage. I should say "yet" bc if his cpk levels continue to rise, they will eventually take a toll on his heart, liver, and kidneys.
Afterwards, we were admitted to the NICU. The rest of the day was filled with needles, blood vials, test results, consults, and aching bones from standing on those concrete floors. Now I know why so many nurses wear those fugly orthopedic shoes! When night came, Andrew refused to be set down in his hospital crib. Mister and I had to take turns holding him IN the crib - really wish I would have snapped a picture of Mister folded up in there with his hooves snaked out of the rails - and attempting to catch some sleep on the slab of concrete they called the "pull out bed". I think the 2 of us got a combined total of 2 hours sleep. It is a NICU, after all so besides the hard cramped surfaces we were laying on, there was always at least 1 baby screaming (sometimes Andrew, sometimes the one in the room next to us), nurses coming in the room to do thier thing, or conversations right outside our door (we were directly in front of the Nurse's Station. It was a looooooooooooong night.
Day 2 was Saturday, the day we thought we were going home. Unfortunately, Tot's cpk levels rose over night and his urine output wasn't as strong as they thought it should have been, given the amount of fluids being pumped in him, so we were told pretty early in the morning that we were staying overnight again. DecGenes called us and explained all the new things he was testing Tot for and that his blood would be sent out to Houston for a CPT II test, to Atlanta for a Duchenne's Muscular Dystrophy test (my stomach churns just typing that one in here) and to the lab there at Vandy for a myriad of other tests. He told us we'd get discharged in the morning unless something emergent occured.
Mister needed a break so he left the hospital at 11:00, leaving me to handle the day's blood draws and tests alone. I convinced his Attending to switch the crib out for a human sized bed to make the night a little more manageable which screwed me for the rest of the day. Since there were not crib sides on the bed and no husband there to help me out, I couldn't leave Little for a second - I had to call a nurse into the room just so I could use the bathroom or go heat up his bottle. Since I hadn't gotten any sleep the night before, it was quite an exhausting day. They took more blood from the not-so-little boy (I say that bc as the days went on, he got more and more swollen from the amount of iv fluids in him) which became harder every time. His tiny veins were recessing below his swollen arms and legs and when they did get one stuck, he clotted so quickly that they couldn't get enough. He was stuck over and over and over again while we there. Both of his hands and feet and elbow pits are riddled with holes and bruises.
Mister came back around 4:30 without the diapers I asked him to grab from the car, but then left again for an hour to get us something to eat.....right down the street...and again returned without the diapers. But he did bring me earplugs. Right before he came back, Attending stopped in to say goodbye for the night and talked with me for a bit. She basically told me to be thankful for the time I have with Little as he is right now. Her exact words were "he's here now - and he's happy" It is looking more and more everyday like he has a lifelong illness such as muscular dystrophy or a myopathy. Attending was very sweet and it must be hard on her and the rest of the staff to get attached to these little angels that come into thier NICU and leave there forever changed.
The night was a little easier with the earplugs, the bigger bed, and no screaming baby in the room next to us. Mister took Andrew til about 3 a.m. then we switched. Sweet Boy fussed for 15 minutes and a nurse heard him so she came in and ordered his next blood draw and gave him medicine since he was already awake. The 1st IV Therapist noticed his leg looked extra puffy so she pulled out his iv. They had to stick him anyway for a blood sample so she said they'd just put a new line in him in a different vein. She tried for half an hour to get one in. It was torture. Little Bear screamed his head off the entire time. She gave up and went to call in a different IV lady. During the 30 min it took the new lady to come in, Tot fell asleep. I felt so horrible having to wake him up after just 10 minutes for another round of needles. It took this lady 30 minutes also to get a line in! My poor poor baby was awake and screaming in pain from 3 to 5! At at around 6:00, he woke up screaming and crying again. He was completely inconsolable for 20 minutes before a nurse came in to check it out. She unwrapped his arm that the new iv was in and her eyes about bugged out of her head. Here's what she saw:
He was screaming because his arm was being blown up like a balloon!!!!!! The iv blew through his vein and was just pushing fluid directly into his arm. His skin felt like sausage casing and his hand was rock hard. No wonder he was so upset - it must have just been throbbing! We weren't upset with the IV Ther. bc we know these things happen, but we were certainly happy with the nurse who decided to take it out! She wrapped his arm in heating pads and said it would go down over the next day or so. Andrew had also developed a rash across his stomach that we all think was stress related. It had cleared up before we ever left the hospital. When I saw it, I figured what it was but also thought "well crud, they're going to make us stay again" bc I know that an abdominal rash can be a sign of kidney failure, which is what they were monitoring to begin with. All of his kidney function tests were normal though.
Andrew ended up sleeping on my chest for 2.5 hours later that morning. Poor little boy had just been through so much. Mister and I decided that unless something emergent was going on, that Andrew was done for the weekend. If they wanted more blood for a new round of testing, it could wait til Tuesday. There was no way I was letting anyone with a needle get anywhere near him after all that. I even told his Attending I was going to stuff him under my shirt and run out of the hospital with him if they wanted more blood. :) She decided to let us go home instead.
He was this exhausted by 7:00 p.m.
He slept til 8:10 this morning.
We have to take him in to his regular pediatrician tomorrowfor another blood sample for another cpk level test and then it is back to VCH on Thursday to meet with DocGenes and discuss whatever results of whicever tests have come back by then. We may leave there no closer to a daignosis, or we may leave there with an answer. There's just no predicting how long it will take to figure out the underlying cause of Andrew's muscle damage.
I am so tired.
Thank you all so much for your prayers and support over the weekend. It was rough and it doesn't look like it is going to slow down any time soon. I wish we lived closer so I could have some help during the week from a grandma or an aunt or a friend but this is my lot in life, not yours, and I'm handling it the best I can. It is very hard to have a 17 month old who can't do for himself. You always think when you have a baby that the days of doing absolutely everything for him will one day end as he learns to walk, feed himself, dress himself, etc. You don't think he'll be 100% dependant on you for life, you know? It's difficult but I absolutely love this little boy with all my heart and I would do anything for him - I just wish I got more sleep!
