Adelina was born severely hypotonic and with a silent aspiration. At four weeks of age, she had a G-tube inserted for tube feedings and at the same time we had a muscle biopsy. The tissue sample has been studied in three labs so far (New York Presbyterian, A specialist in Columbus and Dr. Bonnenman at Phildelphia Children;s hospital). The result: they can not even diagnose the CMD with 100% accuracy, let alone the sub type. We are unable to identify the missing protein or gene. We do know that the connective tissue between Adelina’s muscle fibers are abnormal. Ulrich is suspected, but not diagnosed. And regrettably now there is not enough tissue sample to continue with biopsy procedure, unless we want to take another sample. Right now we choose not to, as any diagnosis would not alter treatment, and the procedure to take the sample would set her back quite a bit. So we are CMD, merosin positive, subtype unknown.
Adelina HAS grown stronger. She is able to sit up, roll from tummy to back and side to side. She can feed herself. She claps and dances with her upper body. Adelina’s intelligence and emotional capabilities are average (or as proud parents believe, above average!).
Her speech is delayed as hard sounds and consonants require constriction of muscles, and her muscle weakness is generalized throughout her body. These are the same muscles that make it impossible for her to drink un-thickened liquids. So we thicken all liquids, and supplement her nutrition by tube when necessary (typically when she has cold or recovering from illness). She has a very weak cough, and almost no gag reflex. We had a great run in the fall when we had a 9 week stretch of no tube feeding at all, and came close to thinking about removing the tube. Then, an episode of vomiting resulted in an aspiration which caused a very scary hospital stay this last January, we started tube feedings again. During this stay Adelina had pneumonia and was intubated. We were fearful of her ability to come off of the assisted breathing. But she was a real trooper and was released after 3 weeks in the PICU. But now we have bi-pap, pulse oximeter, and a nebulizer in addition to the suction equipment we already had. We used all equipment with daily regularity for a few months past January, including constant bi-pap at night, but now we use only the pulse ox at night as a monitor, and suction as needed.
We now believe she was lactose intolerant to the pediasure product we were using, as since switched to a soy based product. The constant vomiting (which was more dangerous than the bad swallowing) has not recurred since. Her greatest challenges with lung issues are when colds hit, (similar to Maia). She gets very weak, and can not keep up with the mucus. A cold take weeks to recover from. She receives synergis vaccinations all winter to help the fight against respiratory infection.
Right now we are 3 weeks no tube feedings, so wish us luck! She has found a love of pizza and grilled cheese, as any almost 2 year old would might. And of course, ice cream. ANYTHING for ice cream. And strawberries. And goldfish. And pretzels. Liquids are thickened still, either with Thick-it, or in the case of milk with yogurt or rice cereal. After a long time of no appetite, Adelina has discovered the joy of eating!!
Adelina can not crawl or bear any weight. Chances of walking do not look good.
Our biggest physical problem of the moment is scoliosis. Adelina has a curve in her lower lumbar as a result of the low muscle tone to keep her posture upright. It was at 35 degrees in December, and is now at 55 degrees. The recommended action plan is to surgically insert growing rods (Or VEPTR) from her pelvis to upper rib. These telescoping rods are then surgically lengthened (day surgery) every 4 months for the next 10 -15 years, until we fuse her spine. Intellectually the need to protect vital organs (heart, lungs, etc) and make sure they have room to grow is the priority, but needless to say, the whole thing is depressing and terrifying. And of course, pending multiple surgeries which mean multiple recoveries, we therefore keep the feeding tube inserted. We are hoping to keep the curve at bay at 55-6- degrees for another year to allow for more growth and weight. Adelina is a very petite 18 pounds, and the hardware is a bit too big for her frame. Also, mom (me) is trying to procrastinate as long as possible, as the entire ordeal once again means a big shift in the quality of her life and in ours as a family. Rolling over, and wiggling (her “dancing”) will no longer be options with the rigidness of the rods. And, she will have very limited time between surgeries and recouperating for her favorite activities (picking up big brother from school, going to the park, etc.). Also, it is a bit contradictory that her therapists do not feel so strongly that this surgery is the way to go. Do you follow advice of surgeons who see her for minutes 2 times a year, or her therapists that see her every day? But one day at a time…..
When surgery does occur, we will take another tissue sample to start the diagnostic odyssey again, as not having a definite diagnosis is QUITE frustrating.
Right now Adelina is doing great. She has OT 2 x a weeks, PT 3 x a week, and speech/swallow 4x a week. She is learning sign language to support her verbal skills so frustration is avoiding on all fronts. We have also ordered a dynavox for her.
Adelina has been seen regularly and privately by a neurologist, orthopedist and orthopedic surgeon, GI doctor, pulmonologist, and pediatrician. I guess we’ll be adding dentist to that soon, as all teeth are in and accounted for! She has X-rays every 4-6 months. She will be seen in clinic for the first time this month, where she will be fitted for her first motorized chair. We are very excited, as we know she will love this independence. She also has a stander, and will have a gait trainer in the fall.
Adelina loves her dog, her brother and Dora the explorer. She loves music and reading. She is a social butterfly, and holds her own when sharing toys and snacks (do NOT take her snack – big mistake). She has the best giggle, and makes you feel great just by being with her.