Special Needs Parenting (A personal Story 2)

Claire (not her real name) is the mother of two beautiful sons, her oldest being four and a half years old and her youngest 10 months. Having an impending trip three months into her pregnancy she decided to go for her neonatal check up to make sure that she was fit to travel. The attending physician however discovered that she had a low lying placenta (Placenta Previa) which was concerning news for Claire  given she had lost a previous pregnancy due to preeclampsia and other pregnancy related complications. Her doctor reassured her though that all was well and she could travel which was calming news and assumed all would be smoothing sailing from here.

Claire used to spot throughout her pregnancy but with frequent monitoring and progesterone medication she was told that as long as the blood was brownish in colour there was no need to worry. When the blood turned bright red, her doctor put her on absolute bedrest for 3 days which meant she had to eat and work from the bedroom “my family would come and have super with me (in the bedroom) since they didn’t want me to feel lonely.” The spotting stopped momentarily but started up again a few days later which led to another week of bedrest. One night she woke up feeling like she was peeing uncontrollably and when her husband switched on the lights they were shocked to find a pool of blood all over the bed “it was just gushing out with any slight movement and we had to call an ambulance… but I could still feel the baby kicking.” When they got to the hospital the doctors were able to stop the bleeding and planned to let her go home; however, when she passed a rather large blood clot in the ladies room, they opted to admit her overnight instead with subsequent regular check-ups.

At her 8.5 months check-up the sonographer noticed that her baby’s brain seemed not to have fully developed and had a “molar” shape as there appeared to be a missing vermis. This was suspected to be dandy walker syndrome which is a congenital brain malformation involving the cerebellum (an area at the back of the brain that controls movement) and the fluid filled spaces around it (dandy-walker.org) and hence an MRI needed to be done after birth to confirm the same.

Given the news she got at 8.5 months of pregnancy, when she began to feel contractions a few weeks later, she did not want to go to hospital due to fear of the unknown but grudgingly she drove herself to the hospital. Her water broke a few minutes after her arrival as she had already dilated by 6cm and within two and half hours she had delivered her baby boy.

The following day as she was breastfeeding her son she noticed that his breathing was rapid and seemed a bit jaundiced and asked the nurse to call her doctor as something felt off. This was ignored by the nurse since they did not consider jaundice as a serious case. The following day when the doctor finally passed by the hospital her baby had turned orange and hence they put the baby under the UV light but the condition did not change and in fact got worse. At 4 pm the following day the doctor said they now had to have a blood exchange done. Given she had just given birth Claire was not allowed to donate blood and hence they had to appeal to blood donors which was tricky given that it was a Friday and most people had already started drinking. None the less her neighbours and friends showed up in support and they were able to get a suitable blood donor. Claire was also advised to express some milk as her breast were engorged since her baby wasn’t breastfeeding earlier but due to the stress and frustration of the blood donation she was not able to express milk and hence her son needed to be put on formula.

The procedure was done successfully and the jaundice levels dropped, and she was discharged the next day while her baby recovered from in the NICU where she would go to visit him. “Every day before I would leave the house for the hospital I first had to breathe in an out and prepare myself for any news,” she shares.

Later on when she was told that her baby was going to be discharged, something still felt wrong. Her son would not breastfeed well, his breathing was still rapid and she had noticed spots of blood in his poop. She therefore insisted to see the doctor first and showed him the baby’s diaper. The doctor in turn suggested that they have an x-ray done since given the blood exchange there was a risk that her baby had gotten necrotizing enterocolitis (NEC) which is a condition where a section of the gut dies. This necessitated stopping all feeds through the mouth hence her son had to be feed intravenously and was subsequently admitted for 2 more weeks “it was so hard to watch him as you could tell he was hungry since he was sucking on his fingers” she explains. “The bills at this point were piling and by the time he was eventually discharged the total bill had reached about 1 million of which insurance only covered 100,000 shillings.”

Despite later being cleared to take her son home she still felt like something was wrong as his rapid breathing had not stopped but at this point hoped it would normalize with time.  

Two months later her baby was not adding weight but her doctor did not seem concerned hence she opted to seek a second opinion. Upon examination her second doctor referred her to a paediatrician and recommended that her son be put on physiotherapy since he showed signs of poor muscle tone. The nutritionist first asked her to monitor how much milk she was able to produce through expression. This helped her realise that she was actually not producing enough milk; raising the question of why her baby always seemed full yet she did not have enough milk? The paediatrician explained that due to her baby’s low muscle tone his stomach would easily protrude giving the illusion of being full. In  they discovered that her son did not like the smell of the soap being used to sterilise the feeding bottle. After making all the necessary changes, her baby immediately started feeding well and gained 700 grams in one week.

When her baby turned three months old an MRI was needed given what was identified during their ultrasound earlier. It is at this point that she discovered her son had Joubert syndrome (JS).  

They also discovered that one of her son’s kidneys wasn’t functioning, however the other one was working fine and hence they did not need to have a transplant done.

One month later, during one of her clinic visits, the nurse further informed her that she suspected that her son was blind, but she did not believe her “he would reach out for my face and react to my facial expressions,” she explains “We therefore opted to see an ophthalmologist.” As she suspected the doctor assured her that her son could see but due to his condition he did have irregular eye movement called ocular motor apraxia (OMA) where an individual has to turn the whole head to move the eyes while follow something.

“It had just been one thing after the other,” she continuous ”at 6 months he began to have sever constipation… to the point that he would scream… and we had to rely on suppositories.” The doctors gave her different advise on how to deal with the constipation and when all else failed she decided to take a step back and do the one thing they had not yet tried; change his formula. After this he was fine and they came to discover that the formula they were using did not blend well with his new weaning diet.

At 10 months her son then began to snore at night to the point that it sounded as if he was struggling to breathe. This was caused by inflamed adenoids which was blocking his airways and could potentially have an impact on his heart and other body organs. He was therefore, scheduled for surgery to have them removed.

Despite all these challenges Claire shares that she drew her strength from social media groups and platforms. “The good thing about the internet and being on the social media groups is that we can share stories and experiences and you might find that you even end up explaining things to the doctors, as it being a rare disease most doctors may have never encountered it before… You also get support and an avenue to just vent and blow off steam. Here she also discovered that some people might have mild JS but not know it until they are older as other than delayed milestones they did not have any other symptoms.”

Claire urges everyone to be a lot more sensitivity to others plights and mind their words. This is especially true for parents as what may have worked for their children does not work for everyone especially someone with a special needs condition. While they might be trying to help, some words do more harm than good. She also adds that more awareness and education on special needs conditions should be done to avoid scenarios where one can’t use public transport since no one wants to sit next to them.

Have you heard of Joubert syndrome (JS) before today? If not, kindly share this story and help create awareness of the same and end the stigma surrounding special needs conditions.