My Story

Kaitlyn was diagnosed with Spinal Muscular Atrophy when she was five months old. Spinal Muscular Atrophy Type 1 (SMA1) is a genetic disorder that occurs in 1 in 4 children born to parents who both carry a recessive gene for it. (1 person in 40 carries such a gene.) There are five main types of SMA, type 1 being the most severe and the most common. SMA affects one in every 6,000 to 10,000 live births. This disease is degenerative and affects the motor nerves, resulting in muscle wasting and weakness. Children born with the disorder gradually lose strength in their nervous systems and die, usually by the age of two. There is no known cure or long-term treatment. However, the National Institutes of Health (NIH) and the National Institute of Neurological Disorders and Stroke (NINDS) have selected SMA, out of more than 600 neurological disorders, as the disease closest to being understood and a treatment or cure developed.

After learning Kaitlyn’s diagnosis we went home and researched anything we could find on the internet about SMA. The information was overwhelming for us and there were no options given to us from our local hospital about approaches we could take in caring for our daughter. There are really three options when caring for a type 1 child:

• Let nature take it’s course
• Using NIV approach (the method we chose for our daughter)
• Tracheotomy

We found that there are to date no drug therapies which have been confirmed to either extend lifespan or increase strength in SMA children. There are however, drugs that have been shown to increase the SMN (Survival Motor Neuron) protein in cells from SMA patients and in genetic animal models of SMA. At five months of age, we decided to start Kaitlyn on such a drug. Valproic Acid belongs to a class of drugs known as histone deacetylase (HDAC) inhibitors. These drugs increase the activity of certain genes in the body.

Kaitlyn is missing the SMN gene, which produces a protein in the body called SMN. A second gene called SMN2, which is almost identical to SMN1, is found in the same chromosome. However, while the normal form of SMN1 produces a full length functional protein, most of the protein produced by SMN2 is truncated and unable to function. The relatively small amount of normal SMN protein produced by the SMN2 gene can reduce the severity of the disease. `Therefore, investigators have begun looking for drugs that can increase the amount of normal protein produced by this gene.

They tested Valproic Acid to see if it would increase the amount of normal protein produced by the SMN2 gene. They found that the more drug they gave, the greater the amount of gene activity. The drug also increased production of functional SMN protein. VPA has a mechanism of activation, such that the whole amount of SMN2 RNA is elevated after VPA treatment.

We definitely feel that Kaitlyn’s strength increased after beginning this medication. While some may argue that she would have gained this strength with or without the drug, being that her disease is degenerative she has continued to maintain her strength and even continues to surprise us with new movement.

We had our first appointment with a pulmonologist when Kaitlyn was about 5 ½ months old.  We expressed our interest in getting Kaitlyn started on an NIV approach.  We were interested in starting Bi-pap and cough-assist.  We were told by this pulmonologist that these machines were not used on children so young. We said that we were reading information that suggested that the machines were being used on very young infants. His response was that a ventilator was no way to live. The hospital had a cough-assist, but I don’t think at this point they had actually begun using it much, and certainly not on any infants.

At six months old Kaitlyn got her first cold, which rapidly advanced to pneumonia and her right lung collapsed. Rather than put Kaitlyn on Bi-pap (as this just isn’t understood in our hospital) she was placed on high flow oxygen with humidifier. With around the clock chest percussions, position changes, and a strong will to live Kaitlyn pulled through and was only in hospital for ten days. She came home with an NG tube and while we did feed her bottles she was weaker than pre-illness.  We were able to continue feeding her bottles for about two weeks after we got home, and then we had to switch to tube feeds, she had lost her swallow at seven months.

We decided to have a g-tube placed. At that time we were told that a Nissen probably wasn’t necessary, as our daughter showed no obvious signs of major reflux. In hind sight, this is probably one of the things that I most regret not having done at that time. Kaitlyn’s G-tube was placed when she was nine months old. The surgery went well, they used minimal anaesthetic (instead of the normal cocktail), and allowed Kaitlyn to continue to breath on her own rather than paralyze her. She extubated in the operating room and did fantastic afterwards. We were out as soon as we figured out feeds and had everything we needed to go home with.

At ten months Kaitlyn started Bi-pap. We met a new pulmonologist when Kaitlyn was hospitalized at six months and he was aware of the NIV approach of caring for these children. He helped get us started with Bi-pap and cough-assist. We let Kaitlyn get used to Bi-pap, which she took to right away, she was exhausting herself trying to breathe everyday. The longest she would stay awake throughout the day before having a nap was about two hours! Then we introduced cough-assist at almost eleven months of age.  This was late by SMA type 1 standards.  At eleven months of age Kaitlyn aspirated formula. She was hospitalized with atelectasis and possible pneumonia from aspiration. This hospitalization may have been avoided had we started the cough-assist sooner, and were familiar with how to use the machine.

It was during this stay that we decided to have a J-tube inserted in order to bypass the stomach. The J-tube allowed us to feed Kaitlyn directly into her small intestine reducing the risk that she would aspirate and get sick again. This turned out to be one of the best things that we could have done for Kaitlyn. She didn’t spit up after every meal from then on. The first J-tube placed blocked Kaitlyn’s G-tube, which was a month of no sleep. While on Bi-pap Kaitlyn swallows air (this is common) but we had no way to vent her stomach.  We had to take Kaitlyn off of bi-pap and manually burp her. This was very unpleasant for her, as she would spit-up. (Even though we fed Kaitlyn via J-tube the stomach is constantly producing fluids). As a result of her spitting up she was also aspirating some of this fluid! We had a couple weeks of low 90’s Sats. We had a larger G-tube placed when Kaitlyn was 12 ½ months. This way we could vent her stomach while still feeding her small intestine. This worked really well for us for several months.

Kaitlyn’s reflux continued to get worse. We couldn’t lay her flat for any amount of time. While we weren’t putting anything into her stomach, the stomach is constantly producing fluids. We were safer when we just let Kaitlyn’s G-tube straight drain. While she lost some fluid and electrolytes this way she also was avoiding aspiration. We did have a few minor aspirations resulting in acute drops in oxygen saturation. But with coughs and bi-pap we were able to avoid the hospital in most cases.

We had a couple of short stays in the hospital when Kaitlyn was around 13-14 months. We were having digestion issues. Kaitlyn’s formula kept backing up from her small bowel into her stomach and out her G-tube.  About twenty minutes after starting a daily feed, out it would start pouring from the G-tube.  We had been feeding Peptinex DT Pediatric (partially elemental diet) since Kaitlyn had received her J-tube, but we decided to try a completely elemental diet Pediatric Vivonex.  Vivonex also contains no proteins from cow milk, which we had been told by other SMA parents that these children sometimes have problems digesting.  We did a straight switch to Vivonex as Kaitlyn was again in hospital with feeds pouring out her G-tube.  When we switched her formula no more food came pouring out her G-tube.  It was pretty much like turning off a tap. Her body was digesting the food. Her heart rate went down about twenty beats per minute and her O2 sats went up about 2-3%.  She had been exhausting herself trying to digest her food.  She has never had another problem digesting her food.

When Kaitlyn was 17 months old she had a chest cold that had been going through the house. We tried dealing with it at home, but with her major dips in O2 during respiratory treatments we felt that the best place for her was the hospital. She was admitted to PICU, and we began our battle to keep her from being intubated. Her x-rays looked pretty good. There was a slight hazy area in her left lung but never any signs of full blown pneumonia. Cultures done five or six days into our stay came back positive for pseudomonas, a very nasty bacterium, growing in Kaitlyn’s lungs. Pseudomonas is next to impossible to get rid of, but can in most cases be managed. We had to place a central line as IV access to Kaitlyn was impossible at this time. The central line was to allow us to add diuretics that were not working orally. We changed Kaitlyn’s antibiotics to an IV form and she began to improve. After thirteen days we were discharged home and weaned Kaitlyn off of bi-pap and extra respiratory treatments ourselves.

We have since had Kaitlyn’s secretions cultured and confirmed that she does colonize pseudomonas. This is very important for us to know as she now needs antibiotics as soon as there are signs that she may be getting ill (better to be safe than sorry).

At the end of July Kaitlyn’s J-tube blocked, and we ended up in hospital again. J-tubes are replaced in radiology under fluoroscopy. It is a relatively simple procedure with minimal risk. However, when the radiologist went to replace Kaitlyn`s tube he lacerated and perforated her bowel! She had to go for emergency surgery to repair her bowel. We were told fifteen minutes before she went into surgery that we would no longer be able to place J-tubes; so we had to choose another way to feed our daughter.  Our options were a fixed j-tube or a Nissen/fundiplication. There are fewer risks associated with the Nissen so that’s what we had decided to do. Thank goodness that my husband and I are so well read! After seven hours of surgery Kaitlyn pulled through with flying colors.  She was intubated for 36 hours after. We used the cough-assist through the endotracheal tube and did her normal respiratory treatments. She extubated straight to bi-pap and was on her regular bi-pap schedule the following day.

We had started TPN (enteral feeds) just before she went into surgery. TPN is the only way to continue feeding an SMA child when they need to be taken off oral feeds. Children with SMA have reduced muscle mass which has serious effects on nutrition, as muscle normally functions as an essential nutritional reserve, or buffer, for protein, carbohydrate, and mineral metabolism. The loss or reduction of this buffering capacity limits the ability of the body to adjust to simple overnight fasting. The role of muscle in fasting is especially important. Although the liver has a reserve of glucose in the form of glycogen that can sustain blood sugar levels for six to eight hours after a meal (only two to three hours in an SMA child). Muscle becomes the primary source of glucose for longer periods of fasting. Muscle does this by breaking down its own protein for glucose synthesis. For a child with SMA who may have only 10% of normal muscle mass, a significant amount of muscle mass must be sacrificed to supply amino acids for glucose synthesis. After figuring feeds out and working up to full feeds we were able to go home.

We found out during this hospital stay that Kaitlyn’s had blood clots in both groins. The clots were both arterial and veinous. We were of course mostly concerned with the arterial clots. Kaitlyn was started on a drug called Enoxaparin. It’s a heparin based drug given twice a day as a subcutaneous injection. With the aid of ultrasound scans and a few months of subcutaneous injections, we were able to determine that the clots are completely dissolved. Some of the clotting was so extensive that Kaitlyn’s right leg has formed so many collaterals that it rendered the leg useless for future central lines. The left leg has a few collaterals but we think that it can still hold a central line; at least this is what we are hoping. Kaitlyn’s Haemotologist suspects that Kaitlyn has some secondary disorder (secondary to SMA) which predisposes her to blood clots! Like she doesn’t have enough issues! Testing to confirm this clinical diagnosis is quite extensive. It requires several blood tests including genetic testing, but since there is a history of blood clots on both my side of the family and my husbands, we have decided not to pursue further tests unless NEEDED. She has come off of the Enoxaparin injections, but will need to go back on the drug anytime that she needs IV’s, central lines or surgery. Kaitlyn is the only SMA child of any type that I have ever heard tell of with a clotting problem. And I have asked around!!

Since coming home from her hospital stay in August 2008, Kaitlyn has not been hospitalized. We are managing everything from home. Now that she has her Nissen she is MUCH more stable. The only thing we go to the hospital for now are Neuromuscular Clinics, appointments, RSV shots, bloodwork, etc.

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