The Great Outdoors
Written Jun 17, 2012 10:16pm by Hillary SirmonBenjamin spent some time outside today with the girls in his swing. This was his first time to be outside for any amount of time, and he loved it. Benjamin tried to nap a little when he wasn’t being splashed with water, almost sprayed with febreeze, and having his swing abruptly stopped by tiny feet and hands. I love that Lennon and Isla want to play with Benajmin, but sometimes it can be a little dangerous for him. 🙂 As the day went on, the coolness of mid-day left, and Benjamin started to get a little hot so we carried him inside. I forget how just the smallest changes can make Benjamin so tired, and he slept most of the afternoon. Before I put the girls to bed, I peaked in on Benjamin and found him tucked in with two blankets and holding a small stuffed bear. Lennon was standing by, begging to sleep with him. I just love how she loves him.
The Journey to a Cure
Written Jun 24, 2012 11:02am by Hillary SirmonOver the past few months, I have been working very hard to make sure we are knowledgable on Benjamin’s diagnosis, treatments, and research, as well as, making connections with other families. Since Centronuclear Myopathy is such a rare disease, there is very little research on various treatments and most drugs are experimental. Testing has been underway for a treatment for MTM-CNM and the drug has been successful in mice and dogs. Sunday, a long awaited announcement was made…researchers are in the process of preparing for human clinical trials. This is such good news for not only Benjamin, but for hundreds of other little boys around the world.
Riding on the excitement of a possible treatment, I was disappointed by some additional genetic testing we received Thursday. To help explain, Benjamin was diagnosed with Centronuclear Myopathy by a Muscle biopsy. At this time, there are three known types: X-Linked Myotubular Myopathy, Autosomal Recessive Centronuclear Myopathy, and Autosomal Dominant Centronuclear Myopathy. Benjamin was tested for X-Linked MTM because his presentation matches the diagnosis. Both tests came back negative, meaning we still do not know the gene that has been affected. Without knowing the exact gene, he would be excluded from treatment if one became available. For a small group of boys, a gene has yet to be identified. Luckily, researchers have shown some interest in Benjamin, and hopefully with their help, we can eventually locate the involved gene.
Thursday, we had multiple appointments at Ochsner. We started with the nephrologist for Benjamin’s kidney stones. He showed some concern since Benjamin had a high amount of calcium in his urine at the time of discharge from the hospital. He discussed with us the need to start Benjamin on a medication to help with the increased calcium. The nephrologist sent Benjamin for blood work and urine collection. Benjamin is not an easy stick to draw blood so I new this would be a problem. After a missed stick in the arm, they decided to draw blood from his head. Benjamin cried, but on a good note, made sounds in the process. This would definitely be the silver lining on a very gray cloud. The next day, I received a call from the nephrologist. He stated when Benjamin left the hospital his calcium level was at 1.89. From the urine he tested yesterday, the level was down to .6 which is only slightly above normal for his age, and all blood work was normal. No medication will be needed. Great news.
We then visited the pulmonologist. He thought Benjamin looked great, but he added a rate on the ventilator to give him a little more help and hopefully leading to more energy. I want to give him the help he needs to breath, so he can learn to play and move.
In the middle of our visit, the battery for the ventilator started to die. A nine hour battery had lasted two hours. Yes, I am supposed to have the wall plug for the ventilator, but when you are packing twenty different pieces of equipment, it is easy to forget a few things. Luckily, the company brought us a new battery. The gentleman who delivered the battery, looked at me with a smile and said, “Now ma’am, you know you are suppose to bring the extra plug.” Mid-sentence, I put my head down and held up a hand as if to say, “sir, thank you, I don’t need a lecture. I will listen when you have to bring three people to transport your child out of the house.” He just looked at me and smiled. I explained that I learn by my mistakes and thank you very much.
After all this, poor Benjamin had his four month old immunizations. That baby slept all afternoon, and we let him.
Benjamin continues to do really well. He has learned how to keep his hand in his mouth, twirl his hair, and flick his ear in certain positions. I am starting to hear more sounds from him, especially when he is mad.
On many occasions when I leave the house, people ask me how Benjamin is doing with such a sad look on their face. I have dealt with this since his birth, and it always makes me very uncomfortable. After four months, I finally realized where I had seen that look… a funeral. It is the look that someone gives you when they want to pay their respects because you have lost someone very close. We haven’t lost anyone, and on the contrary, we have gained an amazing little boy. This little boy has brightened up my world, and we feel very lucky to have him. Sure, we will have our ups and downs, but who doesn’t. Most of the time, I feel that Benjamin is much easier to raise in comparison to Lennon and Isla. 🙂 I know most everyone hasn’t had the pleasure to meet Benjamin, but when you do, you will realize what a happy and adorable little boy we have at home. I feel blessed to have him.
Swallow Study #1
Written Jun 27, 2012 12:40am by Hillary SirmonToday we traveled back downtown to Tulane for Benjamin’s first swallow study. Before we start his speech therapy and vital stim sessions, the therapist needed a baseline to see what exactly Benjamin is able to do. I wasn’t expecting too much from today since we have only been working on facial stretches and Benjamin continues with difficulty swallowing. However, as soon as we sat down in the waiting area, we glanced over at Benjamin and he looked as though he was finishing a good meal with active tongue movement, mouth closure, and repeated swallowing. I would almost swear he knew what was coming.
They called us back, walked us to the x-ray room, and transferred Benjamin into a small chair that could have been made for him. He looked pretty comfy. The first trial, she gave Benjamin a very small amount of water and I anxiously waited to see his reaction. Under X-ray, we could see that Benjamin was able to swallow, but with some delay and without clearing the area effectively. It took him a few tries, but he finally moved it down. The second trial, she gave him a little more water. He swallowed the same as before, but because of the increased amount of water, he aspirated just a little and had a small amount move up towards his nose. The third trial was done with thickened water. He cleared the solution much quicker and with no aspiration. I was by no means disappointed by the small amount aspirated. I was so excited that Benjamin was able to swallow when prompted. Now we have something to work with. 🙂 Way to go Benjamin!
Therapy, Therapy, Therapy
Written Jul 5, 2012 2:20pm by Hillary SirmonBenjamin has had quite a busy week…
Friday we had a visit with the geneticist (a 2 hour visit). We are still waiting on further genetic tests, and have more to go, but since Benjamin has so much trouble with blood draws and we are in no immediate need of knowing the specific gene, I decided to hold off on additional tests until other blood work is needed. We have a second round of doctor appts in two months, so we will do additional blood work then. Even though Benjamin’s initial tests for the MTM1 gene returned negative, the general consensus is that Benjamin still has the Myotubular form of Centronuclear Myopathy. The tests only cover 98% and Benjamin’s presentation is exact to the severe form of Myotubular Myopathy. I have been doing some research on a lab in France that may be able to run the test covering more areas of the MTM1 gene that may have been missed previously. The geneticist was very positive making a comment that Benjamin is no longer in the danger zone of the kids that die within a year. 🙂
After our appointment, we made a quick stop by the NICU. Sometimes I wonder what the doctors thought as they sent Benjamin home…he wouldn’t live long, he would struggle while he was around, or that this was such a sad case. By the look of his neonatologist’s face, I think she was a little surprised. Even though Benjamin was asleep and not “performing” :), he looked so great and healthy resting in his car seat. Many comments were made on how great he looked. I enjoyed ever minute of it.
We then went to see the Ophthalmologist. All the news was great. Benjamin’s blood vessels in his eyes look healthy, the optic nerve is well developed, and he is able to converge his eyes to focus on an object. He does have weaker eye muscles and is unable to keep both eyes looking forward at the same time, but none of this was new to us. The good thing about weak muscles is that they can be strengthened. We have already seen some improvements. Benjamin has to return in 2 months to have his tear ducts rechecked since they do not drain appropriately, and to recheck his eye muscles for any changes.
Monday, Benjamin had his first occupational therapy and physical therapy visits with Early Steps. He did a great job showing off all his skills, and both therapists were very optimistic about his potential for improvement.
Tuesday, we returned to Tulane for Speech. Benjamin did not do as well with the vital stim on as he did during the initial session, but he did show increased swallowing once the device was turned off. Overall, he had increased lip closure and appropriate tongue movement. Baby steps. We must be very patient. 🙂
Tuesday night, we had our first outing other than a doctor appointment. We all went to a Fourth of July celebration with friends and family. It is amazing to watch children around Benjamin. They don’t seem to mind the tubes and machines. They are truly interested and still find Benjamin just as adorable as any other child. They are never worried, or scared. Why can’t we all be more child like. I was very appreciative of everyone’s kindness and patience since we do arrive with a lot of equipment and people. It was such a special night to me being able to bring Benjamin out to be with everyone.
Benjamin continues to grow and thrive showing us new “tricks” everyday. He has learned how to pull off the ventilator circuit (never thought that would be so exciting), reach his hands further over his head, and knows how to turn on a few toys. Benjamin is learning how to use the pacifier, and he keeps his mouth closed more often. Everyday just gets better. Sorry this update is a little scattered, but I had a lot of info with a small window to write it in. Thanks for your continued prayers and support.
Milestones and Miracles Celebrates 6 Months
Written Jul 5, 2012 3:07pm by Hillary SirmonA few close friends of ours wanted to have a celebration for Benjamin. The following is the email we received today…
As many of you know Hillary and KC Sirmon’s son, Benjamin, was born in February with myotubular myopathy. He has had a long road of Milestones and Miracles and is now home with his family. Benjamin is dependent on a machine to assist him with breathing but has made many strides since birth.
As friends of Hillary and KC, we have been blessed to watch their faith and strength, as they handle the day-to-day struggles Benjamin endures. As a group we have decided to celebrate Benjamin’s Milestones and Miracles by holding a dance. Please see the attached picture of the invitation. Please call me if you would like to attend or if you need more information. There will be music, food and fun. Please try to come out and join us.
You may contact me at 504-884-7050. We can mail tickets to you or you can make arrangements to pick them up at the door.
Thanks so much!
Big Things Are Happening.
Written Jul 6, 2012 9:17pm by Hillary SirmonAfter a not so successful speech therapy session Tuesday, Benjamin completely made up for it today. The therapist changed the placement of the electrodes to his cheeks and he tolerated it much better. He swallowed more, closed his mouth a few times, and even frowned. (sounds horrible, but for Benjamin to be able to show his emotion is a huge deal) Last session, I suctioned Benjamin about 5 times because of aspiration. Today, I only suctioned his mouth once during the session. This showed some significant gains. I walked into Benjamin’s room tonight to check on him while taking a nap. In just a few seconds, I saw him close his mouth and swallow twice. I have always been a huge advocate for therapy (especially since I am a therapist), but Benjamin has really responded well.
On another good note, Isla can put on her own diaper while standing. It is officially time to potty train. Big things continue to happen at the Sirmon household. 🙂
Written Jul 8, 2012 9:46am by Hillary SirmonWow! We survived out first overnight trip with Benjamin and the girls.
This weekend my cousin married one of my best friends. This was a celebration that could not be missed. The original plan was for all of us to pack up for a day trip to St. Francisville, but at some point Friday, KC and I decided we wanted to stay the night. The preparation began that day. A four-month old baby needs a lot of equipment to travel, so multiple that times 10, and this is what we brought for Benjamin.
I woke up and began organizing at 8 am for a departure time of 1:30 pm. Lists were made, bags were prepared, and packing was carefully planned and carried out at a snail’s pace. I tried to run through every possible scenario in my head. Packed was all the necessities we would need for a week long vacation… We only stayed one night. 🙂
The trip up was uneventful if you exclude Lennon and Isla’s travel antics. I was a little worried when Lennon asked if we were there yet 10 minutes into the trip. We set up at the hotel once we arrived, dressed, and actually made it to the wedding on time. Benjamin tolerated the pictures well, an emergent diaper change, dancing entertainment from his sisters, and meeting the new extended family with only a moderate increase in his heart rate. We survived the night, we are making the trip home (with screaming from the back), and I expect Benjamin will sleep the rest of the afternoon. I will also need a nap once the car is unloaded.
This trip was definitely worth the work, and now we will be better prepared for future trips. We are a family that likes to travel, and Benjamin will be right at our sides.
First Week Without Nana
Written Jul 13, 2012 10:41am by Hillary SirmonWhen we arrived home Sunday from St. Francisville, we made it home with everything we left with except for Nana (my mom). This is the first time in almost two months that my mom has gone home. She has been by my side every step of the way since Benjamin has been home. Although I was a little nervous about her leaving, it was time for me to try to fly alone, and time for her to work on putting her house back together since Dad has been home alone. The start was a little rocky, but it has turned out to be a great week.
Saturday night, Benjamin started with a high heart rate. I assumed this was from all the traveling, but by the time we arrived home Sunday, Benjamin had fever and a runny nose. This was his first illness, and what we were worried of, not knowing how Benjamin would react. After a few days of increased chest therapy, nasal suctioning, raising his oxygen, tylenol, and extra rest, Benjamin was back to his normal self yesterday. We all survived and Benjamin fought like a champ.
Monday, we had schedules prepared for Lennon, Isla, and Benjamin. I woke up early preparing to get Isla to daycare, Lennon to dance camp, while I waited on Benjamin’s nurse. (I finally feel ok with leaving Benjamin a few minutes alone with his primary nurse. Not great, but ok.) At 7:30, I received the call stating that the nurse was ill and was not coming today. Oh my! Drop the schedule, change in plans. I frantically called Honey (K.C.’s mom), she dropped her plans, and assisted me in my time of need. Thankfully, everything worked out, and another nurse came to fill in. Disaster averted. 🙂
Yesterday, we were back at Tulane for speech therapy. Starting speech, my main goals were for Benjamin to swallow appropriately, and for him to be able to make sounds. Much to my surprise, his speech therapist is very aggressive, and yesterday, Benjamin had his first attempt with an adapted bottle. The bottle she used allows you to control the flow of the liquid. Watching the therapist help Benjamin hold the bottle brought tears to my eyes. I just did not expect this, much less today. The bottle contained water with a green dye, so we would be able to watch the flow through the bottle. After the session, I suctioned Benjamin’s trach…and no green dye. Last night I changed his diaper… and there was the green dye. 🙂 This showed that he was successfully swallowing the water without significant aspiration.
Today, we return to Tulane. I cannot wait to see what today holds. Benjamin continues to amaze me.
Bottle Trial #2
Written Jul 13, 2012 9:22pm by Hillary SirmonToday, we were back at Tulane for Benjamin’s second Speech session of the week. Since Benjamin was awake playing all morning and only took a short nap in the car, I was prepared for a sleepy little boy. Benjamin, on the other hand, was ready to work. Starting with the pacifier, he was almost able to completely close his lips around it, and he made more repetitions sucking on the pacifier. The therapist then moved to an adapted bottle which had a shorter nipple since the last one gagged him. She put sterile water with blue dye in the bottle. Holding the bottle at different locations, changes how difficult it is to pull fluid out. She started on the easiest setting. After watching for minutes with very little happening, all of a sudden a drop of blue water lowered into the chamber. Success! And then another, and another. She quickly moved to a harder setting so he wouldn’t get too much water which slowed the flow. We sat another few minutes with little action, then once again a few more drops came down into the chamber. Whoooo hoooooo! Tears built up in my eyes, and as I am trying to fight them back, the therapist looked at me as if 1. She knew I might cry and 2. Maybe she got a little excited too. After a few more attempts, it was obvious Benjamin was exhausted with trembling under his chin. So far, no blue due has been suctioned out of Benjamin’s trach and I am waiting for an interesting diaper change. 🙂
It was such a great session, but I did have one brief moment of sadness. To help the electrodes have full contact with Benjamin’s muscles, the therapist uses a strap to keep his chin (chins 🙂 ) up. With the strap, you could see a little how Benjamin would look without such low tone in his face… Without Myotubular myopathy. It was only a brief moment because I can’t imagine Benjamin any different or any more awesome than he is already. I love this kid!