The First 14 Days...

Welcome family, friends and visitors,

I decided to begin a blog that I will update as much as possible with information regarding our families battle agaist SMA (Spinal Muscular Atrophy) that has affected my daughter Bella Mia. I bet your wondering "What is SMA?" Spinal Muscular Atrophy (SMA) is a motor neuron disease as well as the number 1 genetic killer of babies. The motor neurons affect the voluntary muscles that are used for activities such as crawling, walking, head and neck control, and swallowing. It is a relatively common "rare disorder": approximately 1 in 6000 babies born are affected, and about 1 in 40 people are genetic carriers.
SMA affects muscles throughout the body, although the proximal muscles (those closest to the trunk of one’s body - i.e. shoulders, hips, and back) are often most severely affected. Weakness in the legs is generally greater than in the arms. Sometimes feeding and swallowing can be affected. Involvement of respiratory muscles (muscles involved in breathing and coughing) can lead to an increased tendency for pneumonia and other lung problems. Sensation and the ability to feel are not affected. Intellectual activity is normal and it is often observed that patients with SMA are unusually bright and sociable. Patients are generally grouped into one of four categories, based on certain key motor function milestones.

My daughter Bella Mia was diagnosed with SMA type 1 on July 21, 2009. I had her tested because since birth I noticed a few odd little things. For example, the day she was born I noticed fasciculations with her tongue when she would cry. I also noticed she sounded congested and when I brought my concerns up to the doctors I was tld this was normal and would go away with time. He said she might just be a heavy breather. Fair enough, right?

At two weeks of age, I noticed she wasn't trying to lift her head at tummy time nor was she kicking her feet around much. I brought this up to the pediatrician at her first well-baby visit and the pediatrician said she might just be a late bloomer and even a little lazy. I accepted her advice but something inside wasn't satisfied. A few days after that appointment I began noticing Bellas weists were dropped the majority of the time. I decided to get a second opinion from another pediatrician and finally someone began noticing these little abnomalities as well. She recommended I see a nuerologist just to be safe. So we did.

The first nuerologist was a little unsure of what it could be and ordered a plethera of blood work and CT scans as well as physical therapy. Again, i didn't feel he was right either so I decided to get a second opinion from another nuerologist because I felt like the more eyes that can see her, the better chance I have of someone getting it right. Plus, I wasn't about to have my daughter get sucked dry to complete his blood work orders. Especially because he wasn't even sure what he was look for.

Our first appointment with the second nuerologist went well. The nuerologist said he saw a bit of low tone but nothing too concerning because since she was only 2 1/2 months. He didnt expect her to move all that much anyways. He said he thinks she had a classic case of wrist drop caused by a viral infection she caught as around 3 weeks old. He explained that what could have happened was that her antibodies fought the infection off which is why we didnt notice anything. Unfortunetly, her antibodies fought so hard they accidentally damaged the nerves in her wrist. He stated that the nerves would repair themselves over time and in the meantime we should continue physical therapy and also he recommended we see Occupation Therapy to order her some splits for her little wrist. We felt relieved and went ahead and did as he said.

At 4 months, she had already had 1 1/2 months of physical therapy and I was not seeing much of an improvement. I assumed after having physical therapy 3 times a week, not to mention constant stimulations by me at home, she would at least be holding her head up at tummy time. Sadly, no. As a matter of fact, her strength was not improving at all, it was diminishing. I began noticing her suck was growing rather weak causing her to take in less milk than before. She grew tired quicker and more and more milk would leak out of her mouth when she nursed. By this point I was scared and decided to contact the nuerologist again. He saw her for a 2nd timea but this time at 4 1/2 months. He said he definetly did see low tone now and he too was growing worried. He decided we test for SMA. He said the chances of it being SMA are slim because it is such a rare disease, but nevertheless he said we should rule it out. We got her blood drawn and 10 days later I recieve a phone call from the nuerologist asking me to come in to discuss the results.

I was already expecting to hear the news so I had gone into the meeting with ideas to battle this condition and support her in any way I could. He was so stubborn, negative, and not willing to hear any of our ideas. I was saddened and scared so I decided to take matters into my own hands. On July 21, 2009, he admitted Bella for failure to thrive because she was loosing weight due to he inablilty to swallow. I immediately began researching the first steps I shloud take to be proactive about her condition. I decided to go with the g-tube because I knew this condition would only make her weaker as time went on so there was no sence in me being unrealistic and hoping she might get stronger and eventually eat orally again. While researching, I came across many clinical trials that had been complete by a doctor at Stanford Univeristy. I was thoroughly impressed with what I had read and I decided to contact his office and try to get advice from an expert. I knew my chance of getting him to take my call were slim, but I decided to try. After all, my daughter deserves this! I left a message and less than 24 hrs later he personally returned my call and guided my through the overwhelming decisions I would need to make.

He explained that the new Standard Care for this condition is not widely recognized by hospitals so he gave the link for me to physically print it out and provide it to the doctors. He also explained that this disease is sooo close to getting a treatment that will give these children a normal quality of life. He said if we could just keep Bella going using his recommended Non-Invasive Approach, there should be no reason why she shouldn't be around to benefit from it! I was filled with such hope and did just as he said. I vigorously researched this NIV approach and got a list of all the necessary equipment I would need to manage her care.

On July 24th, 2009 we had a meeting with 9 doctor, case managers, specialists, and surgeons (Nuerologists, Orthopedics, Genetisists, Gastroenterologist, Pediatric Surgeon, and thats just to name a few). They explained that they would like to place a gastrostomy tube and we agreed. I then explained to them that I felt the Nissen Fundoplication procedure would benefit her because it would help keep the reflux that commonly causes aspiration in children with SMA down. They said that they didn't want to because they usually perform that surgery if its absolutely necessary but if I wanted it, they would. I was shocked that they weren't planning on perforning the Nissen! What were they going to do, wait until an emergency situation arose then perform another surgery?? Not to mention that she would be weaker by that point in time and might not be able to ever be taken off the ventalator!!! Either way, they wen't with my suggestion so I was pleased! I also expressed my concerns with her home care and explained to the doctors all the machines that we would need at home to manage her. They aggreed and said they would provide us with everything we needed and the meeting ended with everyone happy.

On Monday, July 27th, 2009 Bella went in for surgery. Everything went perfect in surgery but once she was in recovery, we did notice a bit of retractions in her breathing. After ording Chest PT and doing a few days worth of percussions, she seemed better. The day we were being discharged, we were told by the doctors that all the were going to get to manage her care at home was the pump that we would need to feed her threw her tube. We were flabbergasted! WHAT HAPPENED TO THE AGREEMENT WE ALL MADE IN THE MEETING! If anything, we neeeeeeeded the suction machine but, nope, Kaiser denied it. We went home a little upset but we figured they knew better than us if she needed all the machines we had requested.

We spent 27 hrs at home and guess what...to no ones surprise, we ending up back at Kaiser because she was retracting and it seemed like breathing was getting difficult for her. Also, her secreations had gotten so bad we could not handle them with the blue bulb. We neeeeeeeded a suction machine. We were back at the hospital, now in the ICU. The finally put her on a Bipap machine like I had request and i couldn't believe the Bipap machine they had. It looked like it was from the 80's and the nasal pronges were sooo long they made her nose bleed!!! I had had enough! I researched all my options to get her transfered to a childrens hospital. Let me just say it was a battle in itself but we got it done.

Hurdle 1: Of course Kaiser did not approve transferring her and covering all the expenses. They denied both of our attempts.

Hurdle 2: I applied for CCS (California Children Services) and was going to try through them. Unfortunety I would have had to wait for 10 days to see if we even were approved by them. I didn't want to wait that long because the nature of this disease is the children get progressively worse. There is no time line, things can take a turn from the worse at any given second so time was the enemy.

Hurdle 3: My next idea was to apply for Medical and drop her from the Kaiser policy. I applied for Medical, got it expedited due to her condition and approved. Then i realized that if I dropped her from Kaiser, another insurance provider might not cover her due to her pre-existing condition. After calling my husbands insurance company and seeing if they would allow us to go from our Kaiser to a PPO due to life circumstances and still have her covered, they agreed and did the switch for us! YAY!!!!!!! SUCCESS!!! We got CHOC on the phone and transferrred her!

On July 31st, 2009 we arrived at CHOC (Childrens Hospital of Orange County) and we're soo proud of our accomplishment thus far! Kaiser had only seen 2 cases of SMA in the 60 yrs of experience that our 8 doctors had combined. CHOC had seen 5 cases in that last 6 months! Kaiser did not have a bi-pap machine, they did not have a cough assist for her size, and they also did not have the VEST to help with the chest physiotherapy. CHOC had everything!!! With in minutes of arriving, they started her on a bi-pap and immediately we could see her comfort level rose!

Within 3 days we already have set a "plan" with the doctors for her care. It is as follows:

Bipap machine will be provided by Apria. Apparently, it is a Bipap machine used for people over 30kg (66 lbs?) but its the Bipap machine that Dr. Wong (a leading expert in SMA from Stanford Univeristy) suggested. So far we have encountered problems with the mask size. They decided not to do a full mask bc it wld be impossible to handle her secretions. But the nasal mask has also been a problem bc she's in the akward stage where shes not a newborn but she also isnt a toddler. The nasal mask is either clear from bothering her eyes but it almost swallows her upper lip or we move it up to clear her mouth but then the air leaks out of the mask into her eyes. We now have a smaller nasal mask with a less-intense machine and Bella seems soo much happier and rested. She doesnt look like she struggling to breath at all :)

The Cough Assist was ordered for us. Again, it will be provided by Apria and the make and model wont be determined until my daughter has been fully evaluated. Either way, these are basically all the same, the only difference would be the settings and intensity of the machine.

A O2 saturation monitor was ordered but im not sure exactly what it looks like yet. Im pretty sure it will just be a little sticker-like wire that will go on the bottom of her foot or on her thumb similar to the one they use at hospitals.

And lastly...A suction machine (which is sooooo helpful bc the little blue bulb was almost useless as it couldnt keep up the secreations!)

I know these machines are vital for their comfort and survival but the right machine with the right apparatuces will make all the difference which is why I'm doing so much research on which machines, masks, and accessories other families have used. We are determined to find the equipment that fit her like a glove :)

As for her formula, she was breastfed from birth until we recieved the diagnoses. We had to begin feeding her special formulas with a higher concentration of medium chain fatty acids than long chain fatty acids because they are easy for her to digest. At first we had her on 22 calorie Neocate. But after reading about the Amino Acid diet and all the other formulas such as Pediatric Tolerex or Vivonex, I began researching the best one for her. I did read the Vivonex help make the baby less sweaty, causes less tacky saliva, less fussiness after feeding, higher O2 numbers, and a lower heartrate. She seem to be tolerating Neocate well but she is still very sweaty. She sat's fine, never has fussiness after feeds, and doesnt have a high heart rate, but her sweating is a lil bad :( I brought my concerns up to the nutritionist and she seems to believe that Elecare will be the best for Bella until she can further research the advantages to Vivonex or Tolerex. She said that Vivonex and Tolerex were normally given to children over theage of 1 so being that Bella is only 6 months, she wants to make sure it will be ok and easily tolerated by her.

I also got in contact with California Stem Cell Inc and found out more information about the stem cell clinical trial. I wanted Bella to be a candidate bc she qualifies based on her condition and the fact that we live only 20 minutes away from the city in which it will be held but unfortunately they choose candidates strictly from the SMA patient registry and it goes by the first come-first serve basis. The first 8 candidates on the registry that qualify based on the criteria will be selected. Thats not to say that the first 8 WILL be selected because if they do not fit the crieria they will skip that name and go on the next one. Either way, CSC Inc said that if all goes well with the FDA's approval and no major hurdles come their way, they should begin pulling candidates by mid January. THERE'S HOPE!!!!!!!

So thats where were are today. Tomorrow is another day and more phone calls will be made so I can make sure I have all my options presented to me so that I make select that one that works best for Bella. We are going for the NIV approach but then again, if worst comes to worst and we are left dealing with "should we trach her and keep her with us for a while longer hoping that a treatment will be out" or "should we make peace with our fate and let her go," we will without doubt trach her. This fight is just beginning but at least this time we have a diagnosis, we have a way to manage the condition, and we have a little light at the end of the tunnel due to all the clinical trials and the success they have been having thus far! All we can do till then is make the best and most educated decisions and pray to God because ultimately its his decision.

God bless all those who have to live with SMA both directly or indirectly,
Brenda Barberena
Bradley and Bella Mia's PROUD AND FIGHTING Mother!!!!
Brenda