Declan's Story

D&K w/ Declan: photo by Linnea Farnsworth

August 8, 2012

I will start at the beginning, you may want to get comfortable as it's a long one:

When I was pregnant I knew something wasn't right, he never kicked while in the womb, I kept bringing it up to the doc but he said he was moving in the stress tests, so he didn't put much thought into it. It still stressed out mommy though. Our son Declan (deck-lin) was born at 7lbs 4 oz and 4:07pm.  The cord was around his neck and he was a little purple but they got him going and he seemed to be fine, other than being a little quiet. Later that night, the pediatrician came in and told us there is something wrong because Declan didn't respond to any of the natural reflexes that other babies are born with. Our pediatrician didn't know what to do and that he will be researching and should have more answers at his 2 week check-up.  Safe to say those 2 weeks were stressful and happy.  Stressful because of the unknown and happy because our baby was finally here and he is so dang cute!

At the 2-week check-up, our doc sent us to the children's hospital to get an ultrasound of Declan's brain to check for a stroke which came back normal, so our doc did more research and sent us to a neuro doctor back at the local children's hospital.  We took him for a consult with one doctor up there, and he brought in another doctor, who ended up doing an EMG (Electromyography is a technique for evaluating and recording the electrical activity produced by skeletal muscles.) on Declan.  His oxygen levels were low, and with him gasping they thought it best to admit him and run some tests. Those next 3 days we were getting every test in the book done.  I felt so bad for my boy, I wouldn't have been surprised if he started to glow cause of all the tests that were done on him. 

Here is what we found out:

1 he has really bad reflux, but the test showed he wasn't aspirating into his lungs, which was good.

2 he has a partial paralyzed diaphragm on the right side. Which was causing him to breath pretty hard. He would wake up gasping and coughing throughout the nights, it was very scary.

3 He had contractors in most if not all of his limbs. It means the tendons are too short and the person can't extend their limbs.  With a lot, and I mean a lot, of physical therapy his arms are now loose and his hands are much better. He was always tight fisted since he couldn't relax the hands. We are still working on the legs. we have not been able to get those straight yet.  He has small movement in his forearms and we exercise all the time. 

Update: His legs are almost straight! Declan and I attended an infant massage class and he loves it. So here is what we do: 2 separate pt's (physical therapist) an ot (occupational therapist) and we work with them at least once a week. Then every morning we work on infant massage, and throughout the day we have physical therapy time. On top of feeding him every 2 hours. Also a lot of play time too.
Well SMA (spinal muscular atrophy) was brought up a lot during the hospital and they ran the test, it was a horrible time to wait, so when we got the result and they said it was Negative I was over the moon with joy, but still worried cause we still didn't know what was wrong with our boy.  Next on the list SMARD (spinal muscular atrophy with respiratory distress), and after a long wait which seemed like forever, the doc called us in, the test came back indeterminate..., and I was like “what the hell does that mean?”  This is how SMARD breaks down. With SMARD you have two mutated genes, well with Declan they could only find one.  The doc's are confused cause I guess you can still have only one mutated gene and be perfectly fine, and you would never know you were a carrier.  But for Declan he has all the signs, and they are rather stumped.  They want to run more test to either find the other mutated gene somewhere in his DNA code, and also to test my husband and I to see if we are carriers. We are still waiting for those results I will post later about them. I will also post the definitions of SMA and SMARD so hopefully they will help other families.

We were sent to a sleep doc, and had a sleep study done.  Declan showed signs of sleep apnea, so we were given oxygen and an oxi meter to put on him every night.

As of today Declan is coming up on his 6th month, he is a joy to our lives, and K will not stop touching him cause he is just so damn cute (my words not hers). We just started having fewer trips to the doc's, from every week to once a month... (yeah imagine those doctor's bills lol)

Since birth Declan has had problems with feedings, I wasn't able to nurse because he couldn't latch, and he was still having trouble with bottles. After what seemed like a lifetime I found he did better with latex instead of silicone and we found one bottle top he does great with, the enfamil standard flow, but ONLY this one (I ordered more online).  We are on the bottom of the growth chart but we are following it.  He eats every 2 hours day and night we just started getting him to go about every 3 hours at night, which we let him as long as he meets his feeding goal during the day. He hasn't had any gasping at night since that first month, after we put him on oxygen. We are always moving him all day long.  It is hard to wrap your head around. cause mentally he is there. You can see him working so hard to do things but he just can't.  He still gives us wonderful smiles, and loves to talk (coo) to us. 

The doc's don't want to give us false hope, they are waiting for the other shoe to drop and every day Declan is good it stumps them even more.  Since he is so different they can't tell us what to expect, and we just have to watch him very closely. Everyday Declan remains healthy is great for him. They said if we can keep him from getting sick for his first year it would go a long way to helping him. So we don't take him out much, and we limit who holds him and NO ONE that is sick can come to the house, or close to him. Fun times! All we want to do is share our baby but I rather have him healthy.

Our last doctor's appointment was a bad day for the Fink family. They performed another EMG and it showed a decrease in the signals from his nerves to his muscles. We have one doctor still thinking it is SMARD and another thinking it is another form of SMA. I am letting them fight it out. To me both are bad, but it isn't going to change our daily lives just yet. The doctor said we will start to see a decrease in his activity, even more than he already does. He already can't roll, or sit up; he barely moves his legs, and he moves his arm slowly but can't grasp anything. He can't reach for me, or give me hugs without help. He hates tummy time, probably because it puts too much pressure on his chest and tummy and becomes difficult for him to breath.

But!! He smiles, and laughs, and looks at you with such wisdom behind those eyes. You can see and feel the love he pours out. He tries so hard and I love him for it. I'm sure to everyone it seems like a hard life to do so much work for such a small baby, but Declan doesn't know any different. We have been doing all this work of therapy since birth. Now it may become too much work for me, but today, right now, I will work and work hard to help my son. I am always doing research and trying something new. Like now, I just finished the class about infant massage and I am looking into reflexlogy and a therapy called the Emotion Code. We enjoy everyday we get to spend with him and love him to our fullest. The doctor's said he will probably end up with a g-tube (gastric feeding tube), and a trachea (tube inserted into the neck for breathing), and that my husband and I needed to think about what we wanted to do “when” it comes time for that. Yeah a crushing day for the Fink Family. I almost want to stop going to the doctor's cause every time I leave there I feel down and depressed. I will be happy if they give us false hope I am okay with that, let me be in denial. 

 

So here we are continuing to be strong and working hard everyday. Enjoying our precious boy and still trying to dream the big dreams. Wish us luck!

BTW: Declan means rare and precious. It fits our baby boy well.


Oct 26, 2012
Declan update:
Got a call from the Genetic counselor. We had a deletion test done on Declan for SMA, and it came back Negative! This is what she said:
This rules out SMA caused by problems with the SMN1 gene the most common cause of SMA. Since Declan has symptoms of SMA this test does not mean he doesn’t have a kind of SMA, just not the most common type. This does mean that medications targeted to SMN1 would most likely not benefit Declan, but continuing with the same respiratory, dietary and orthopedic management will still benefit him. I know that this result puts you back into the unknown as far as a diagnosis, and while on the surface it seems that a negative test result would be a good thing, sometimes not having an answer is much harder. We are looking into a couple of different new genes on a research basis for Declan as well as continuing to look at the SMARD gene.

So we are back at square one with no answers.. which is good? So on we go into the unknown. Declan is just too rare, but we love him anyway. :)