Jonathan (Jon Jon) Alexander Sherman was born on 10/29/08. He is our second son and we were SO excited to have another little boy to join his big brother Christopher.
Jon Jon was born a month premature. As soon as he was born he had trouble breathing and was rushed to the NICU where he was diagnosed with: hypotonia, partial sepsis, grade 1 ventricular brain hemorrhage, a small hole in his heart (which eventually did close on its own), hypocalcemia, he stopped breathing twice and needed intervention to start breathing again and bradycardia. He was discharged from the NICU on an apnea monitor which he was on for three months.
At 10 weeks old he was diagnosed with Respiratory Syncytial Virus, hospitalized and needed oxygen support. This was the first of many hospitalizations (including one to the Pediatric ICU) and ER visits for respiratory distress due to his asthma and a few bouts of aspiration pneumonia.
When he was only a few months old, he started Early Intervention Services. He received physical therapy, occupational therapy and speech/swallow therapies weekly and though he was 5 months old he was still functioning as a newborn. He was caught up developmentally by age 2 1/2 and graduated from Early Intervention. We were thrilled!
By age one we had seen every specialist possible for his respiratory issues, global hypotonia, ataxic gait, eye rolling that started at 8 months old and newly developed febrile seizures. This led us to the only Hypotonia Clinic in the world at Johns Hopkins University Hospital where the entirety of our lives changed. During that visit for Jonathan, a geneticist with a keen eye took notice of my husband and it led to a clinical diagnosis of Marfan Syndrome and a heart aneurysm for Tom. After anxiously awaiting for the genetic testing results, a few months later Tom, Jonathan and Christopher all tested positive for Marfan Syndrome. The very next day I got a call from the neurologist revealing that the MRI Jonathan had due to his ongoing eye rolling and febrile seizures revealed he has Chiari 1 Malformation of the brain. Therefore, he has been followed by a neurologist and neurosurgeon since. His next brain MRI is scheduled for December 9th to see if his Chiari 1 Malformation has progressed.
He had a good stretch with no therapies, but eventually began to fall behind again on his milestones. He was diagnosed with dyspraxia and when he was 4, Jon Jon was fitted with custom made orthotic braces to help him stabilize his core and help with pronation in his feet. The braces must be replaced new every time his feet grow and he will need them until he is done growing. Since the age of 4, he has received additional physical therapy, occupational therapy (in school and privately), speech therapy, swallow/feeding therapy, vision therapy, hippotherapy and aquatherapy. He also began behavioral therapy for what would eventually be diagnosed as ADHD/ODD for which he is also on daily medication. Most of these therapies came with a huge out of pocket expense as insurance only covers a portion of the cost for therapies or did not cover some at all. This past August, we decided to give him a break from all of his therapies besides behavioral therapy, until after the new year due to all of his medical exacerbations this past summer.
Jon Jon was officially diagnosed with mild Hypotonic Cerebral Palsy this past summer. He had an endoscopy in June because and the test revealed that his chronic constipation was really making his reflux worse and he is on daily medication for both. He then had a follow up sleep study due to his ongoing issues with sleep and was diagnosed with mild obstructive sleep apnea despite having had his adenoids and tonsils out at age 3. This requires nightly nasal spray (not covered by insurance) to help him breathe better. The sleep study also revealed he has Periodic Limb Movement Disorder which is due to an underlying iron deficiency for which he now needs to take iron daily. He was also diagnosed with mild scoliosis and due to his young age at the time of diagnosis he may be facing back bracing or corrective surgery if it continues to progress. Jonathan was recently seen by a neurogeneticist at Children’s Hospital of Philadelphia due to possible seizure disorder and the suspicion of his neurologist and neuro otologist that he may have a mild, progressive neuromuscular disorder.
There have been so many tests, diagnoses, blood draws and specialists Jonathan has seen since he was born. The culmination of seven years of doctor’s appointments, blood work, swallow studies, MRI’s, CT Scans, sleep studies (he has had two), surgery, EEG’s, EKG’s, echocardiograms, chest x rays, orthotic braces, ER visits, therapies, and medications have buried our family in debt. Tom has had one major surgery and several procedures due to his Marfan Syndrome and asthma. He is on daily medication for both and needs ongoing monitoring of his heart and eyes. Christopher and Jonathan are also on daily medication for asthma and need close, ongoing monitoring of their heart, eyes, and musculoskeletal system. At some point if Marfan Syndrome begins to affect their hearts, it will restrict the boys from continuing to play the sports they so love.
Heartbreakingly this has all taken their toll on our family, not just financially but emotionally as well. Jonathan is such a ball of energy and sunshine. He is very motivated and smart, which carries him through his therapies, appointments, and testing. Seeing his never ending cheery personality helps to keep all of our spirits high. He is an amazing little boy who loves animals (especially our rescue dog Teddy), Tae Kwon Do, going to the park and playing soccer. He lights up any room he is in and is quick to make friends. He believes that there is no limit to what he can do and so do we.
We could not be more proud, or more in love with our family and are so appreciative of the love and support from our family, friends and Steps Together.
January, 2016: We received the results of Jonathan’s MRI and the cyst he had at age two and a half that was big to begin with doubled in size. The neurosurgeon and his specialists felt it was causing pressure on his brain and possibly causing his trouble smelling/tasting and therefore 6 lb weight loss as well as headaches, nausea, and other symptoms putfing him at risk for hydrocephalus. On 12/23 he was admitted directly to ths PICU and had a lengthy MRI and an Intracranial bolt placed directly on his brain to monitor the intracranial pressure which turned out to be high. On 12/24 our beautiful, strong boy underwent brain surgery to decompress the cyst/lower the pressure in his brain (the cyst cannot be removed ) and he had another MRI. He did incredibly well and was discharged home late Christmas day. He will need a follow up MRI in 3 months to ensure the cyst is not filling up with fluid again. The insurance company has denied his entire stay/surgeries but we are appealing and hopeful they will reverse their decision. Jonathan is such a trooper and is back to his happy, smiling self and cleared to go back to school and his beloved Tae Kwon Do. We are so grateful for your continued support!
February, 2016: Jon Jon has had a rough couple of weeks. What started out as a cold, cough and fever quickly turned worse (blue around his lips and low oxygen levels) with visits to Urgent Care, the ER, his pulmonologist and then a four day admission to the hospital for respiratory distress and dehydration. He came home Sunday and is feeling much better! We are very grateful for all the well wishes!
OCTOBER, 2016 Update:
There have been some ups and downs in our family since our last update. Starting with the good news first! Jonathan has had follow-up appointments with his neurosurgeon and had an MRI to see if the results of his double brain surgery this past December are still stable. We are thrilled to report that the large cyst that had been putting pressure on his brain and had to be drained, is not showing any signs of starting to fill with fluid again. He will still need to go back for MRI’s regularly to monitor it, but this is very positive news. We are also excited for Jonathan’s 8th birthday on October 29th and just love seeing our little guy grow. He amazes us every day with his charm, sense of humor, fighting spirit and ever expanding knowledge of this amazing world!
Unfortunately, it has not all been good news. On July 12th, while sleeping in our bed (his favorite spot), he had four (observed), full body seizures that his neurologist counts as “one episode.” Although they did not last long, the entire experience was more than enough to worry us and we followed up with his many specialists right away. We have had concerns that he is predisposed to epilepsy due to family history and his own history of febrile seizures/other seizure – like activity in the past – not to mention the double brain surgeries! He had an EEG and we have been monitoring him very closely since. Thankfully, he has not had any other episodes and his EEG was negative – his neurologist feels the origin of the seizure activity is very deep in his brain, so it is difficult to capture on an EEG. The specialists believe they happened due to scar tissue forming as a result of the brain surgeries and we are hopeful that they were a one time occurrence.
Jonathan was not the only one in the family to go through medical issues since our last update. Melissa has also been struggling with her health. She has gone through a range of symptoms that have taken a great toll on her and we are still in the process of getting a definitive diagnosis. She has been to countless appointments, had many tests done and was admitted to the hospital for 4 days in early September as well as an ER visit recently for different reasons, including a debilitating infection treated with two rounds of antibiotics and a small intestinal obstruction that thankfully self-resolved. Although she has been feeling somewhat better lately, she is nowhere near being back to full health, and there is an underlying issue that has yet to be identified that is weighing heavily on all of us. When this started, (Jon’s brain surgeries and her own health issues), Melissa had no choice but to go on temporary disability from her nursing job. The six months NJ provides for temporary disability has since run out and her employer chose to no longer hold her position. Melissa is still not well enough to return to work and we don’t have a timeline yet for when she will be able to do so. We are in the process of applying for permanent disability (not only due to her health issues, but JonJon’s as well), but it takes a very long time (up to a year or so) to find out if it is approved or not. In the meantime, we are relying on Tom’s income and doing our best to cut corners and make ends meet each month.
JonJon got what seemed to be a regular cold in the last week of October. It ended up being croup and his asthma was exacerbated. He was put on oral steroids and his asthma medications increased after seeing his Pediatrician. By Thursday, after two and a half days of an increase in his asthma medications, he was worse so we took him to the ER. They did a flu/respiratory panel (at my insistence), as he kept saying his throat and chest were so tight and he felt he could not breathe still even after they gave him strong asthma nebulizer medications and increased his oral steroids. He kept telling the staff he still felt so tight and needed more help and despite my pleas to give him a different steroid, we were assured he would be fine and sent home. He had a bad night respiratory wise and still said he could not breathe well. Early Friday AM, we received a call from the hospital that he was positive for RSV and we needed to take him back to the ER. We did, and he was finally given the additional steroid we had asked for the day before. He improved some but still felt he could not breathe and his throat/chest were tight so they admitted him. He will need an ENT followup as soon as possible to discuss removing his adenoids again (they grew back after being removed in 2011) and possibly tonsils as they were only shaved during that surgery. He was upset and worried as his 8th birthday was the following day, Saturday 10/29 and we had a small birthday party for him planned for that afternoon. He spent half of his birthday in the hospital and his party had to be cancelled. He was so sad, especially since he spent most of Christmas Day, 2015 in the PICU after having had double brain surgery. He/we felt if they had listened to him and our suggestion for the new steroid, he may have avoided the extra trip to the ER and being admitted and he said, “My last Christmas was ruined (though he realizes that was unavoidable), but now they ruined my birthday.” We tried to make what was left of his birthday super special and spent the rest of the weekend cheering him up and celebrating the best we could. In usual JonJon style, he made the best of it all and managed to stay happy, declaring that despite his 8th birthday not being ideal, he still had an “awesome birthday!” As always, we appreciate all of your love and positive vibes sent our way!
UPDATE: March 2017
Since our last update, Jonathan has had a few, particularly rough months starting right around the one-year anniversary of his brain surgeries. He has experienced several new neurological symptoms, which have kept him very busy with many different doctor’s appointments, evaluations and tests. He was diagnosed with Dyslexia, which led to additional testing revealing despite having 20/20 vision, there is a dis-connect with his brain and eyes requiring glasses for any up close work. He has also developed a significant tremor in his hands (Dysmetria) that makes school/homework a frustrating and time – consuming task for him. He has also had a lot of difficulty focusing and remembering details, as well as recalling his short–term memory. Many different specialists have evaluated him and noted a new discrepancy in his pupil size, with the right side being larger than the left at different times. This new symptom, as well as some newly noted eye rolling (previously diagnosed as a motor tic) and “spacing out” episodes, have led the doctors to suspect a possible diagnosis of Epilepsy. He is currently awaiting testing to rule seizures.
JonJon had a follow–up sleep study done, which showed his sleep apnea has thankfully not worsened (despite his tonsils and adenoids having grown back), but his Periodic Limb Movement Disorder worsened significantly, despite his iron levels being in the normal range (initially the doctors felt his sleep disorder was caused by iron deficiency anemia). His Pulmonologist has recommended medication to treat it. She is also consulting with his neurologist regarding the medication (used for certain types of seizures) and possible cause of his worsening sleep disorder.
JonJon has been having (mostly) right knee pain and it buckled twice, requiring an ER visit. His orthopedic doctor ordered additional physical therapy and a brace for support and comfort. The doctor feels that his suddenly tight hamstring (usually lax), is putting pressure on his kneecap. At times, JonJon’s leg feels very cold compared to his other leg and he says he cannot feel his right thigh on and off; leading his orthopedic doctor to suspect it is neurological in origin. We have been to many appointments with his current and new specialists and are awaiting appointments (some out of state) in an effort to find the underlying cause of all of these neurological issues. This has caused a lot of stress and worry; however, we try to take it one day (and sometimes one moment) at a time.
Our entire family has unfortunately faced new challenges. On 11/23/16, as a result of Marfan Syndrome, Tom dislocated his kneecap and needed surgery to repair it. He is still getting weekly physical therapy sessions and we are hopeful he will not require any further surgeries. Jonathan’s older brother Christopher has started to experience some Marfan Syndrome related complications. He has had hip and knee pain and was prescribed custom orthotics to help correct these orthopedic issues, so in the future he can hopefully avoid having repercussions. He is also at the age where he will need to be very closely monitored for any Marfan Syndrome related cardiac involvement. Melissa was recently diagnosed with Crohn’s Disease and reactive arthritis and will be unable to return to work for the foreseeable future.
As always, we are so appreciative of every meal, donation, and gift card. Most of all, we are truly grateful for all of your prayers, positive vibes, friendly calls/texts/emails and all around love and support.