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Faith Is All You Need

The Layers Project Magazine, Orah Lasko, Special Needs Parenting, Genetic Syndrome, USP7, Jewish Women, Portraits

I have three kids. My two oldest are girls; Sophie is 7 and Emily is 4. My husband and I had always talked about how we wanted a boy. My grandfather passed away when we got engaged 9 years ago and I so badly wanted to have a baby to name after him, as he was such an important part of my life. So, when my husband and I started to discuss having a third child, I would wake up every single day and daven. I would open up Tefillat Chanah and Aneini and say all the tefillot that I could possibly say asking for Hashem to give me a son. I remember repeating over and over, “I’ll do anything for a boy.” 

Little did I know how true those words would soon become. 

A month later I found out I was pregnant. Weeks later I found out I was having a boy. We were beyond ecstatic. I made sure to eat healthy and exercise and was positive that I was on the right track toward having a healthy baby boy.

Due to being on blood pressure medication, I couldn’t nurse my son when he was born, so he was fed a bottle straight away. After that very first bottle, every time Jake would have a bottle, he would scream. I made the nurses check him for a tongue tie and anything else they could possibly think of that would cause a baby to be in such distress while feeding. Nothing. 

We came home from the hospital and the screaming continued. I took him to the pediatrician four times within his first five days of life insisting that something was wrong but they kept telling me it was colic. Jake quickly started to refuse bottles altogether and started losing weight rapidly. On Yom Kippur, I was force-feeding him with a syringe. That night, the night before his bris, our pediatrician sent us to the emergency room because Jake had lost so much weight. We weren’t even sure he’d be having a bris. These doctors couldn’t find anything wrong either and sent us home. He had his Bris and that Monday, I took him to the gastroenterologist. I knew something wasn’t right. They quickly figured out that he had a milk protein allergy. A few bottles of hypoallergenic formula and he was good as new. 

When it came time to feed him baby food, every time I’d give him even the smallest spoonful, he’d gag or choke. Something wasn’t right but the doctors insisted he’d grow out of it.  At his 6 month checkup, the pediatrician asked if he had started to babble. He hadn’t. He had never cooed either. He was my third child so I wasn’t worried and figured he’d catch up eventually. But as the months went on, there was still no babbling. He wasn’t crawling either. I become jealous over my friend’s babies who were the same age and were crawling around everywhere, cruising and babbling non-stop. I had gone to graduate school for speech therapy so I became increasingly nervous when there was absolutely no babbling. I knew in my gut that something wasn’t right and that we had to pursue this further. 

I had Jake evaluated by a physical therapist and speech pathologist. It was determined that he was severely low tone and had a severe language delay. He immediately qualified for early intervention. We started therapies and that was pretty much all we could do since we had no other answers. 

Months and months went by. No babbling. No crawling. No standing. I was becoming frustrated and worried. In my head, it wasn’t a delay. It was something more. Then began a series of doctors appointments, x-rays, swallow studies. He saw countless neurologists. We discussed the possibility of autism. And still, they said, whatever is going inside his body, it’s no big deal, he’ll grow out of it. 

But a mother always knows best. At a year, we decided that it was time to see a geneticist. He ordered an extensive workup. Jake had no visible veins. After being poked by phlebotomists with no success, we had to get approval from our insurance to have it done at the hospital. The pediatric phlebotomist tried without success. Then she called in a nurse who poked him again and got nothing. Two hours later a third nurse was called in who finally got the five tubes of blood needed. I came home and cried. And cried and cried and cried. How could I hold my baby down and let him be tortured like this? The following week he was seen by an endocrinologist because he had some physical characteristics that led us to believe that more was going on… She then ordered a full workup. 

Back to the hospital we went. Two hours later and the vascular specialist was able to get another five tubes. Success. But I felt like a failure. My son began to see me as someone who was going to hold him down and help other people torture him. Every time I’d try to lay him down to change him, he’d scream and try to get away. It hurt me so much to know that he viewed me that way. 

We waited two very long weeks for the geneticist to tell us the results of the genetic testing. I cried every few minutes, every day, for the next two weeks. I was a mess. I wanted to crawl into a hole. I felt so alone. But I did the only thing I could do. I davened. I don’t consider myself the most religious of people. Nevertheless, I have always felt a very strong connection to Hashem. I always knew that He could hear me. Over the next two weeks, I spoke to Hashem every single day, begging Him not to punish my son for whatever bad things I had done in my life. At the end of those two weeks, right before Shabbos, our geneticist called and said that the two syndromes that he had been tested for were negative. My husband was elated. I was angry. Well, If he doesn’t have this syndrome and that syndrome, then what does he have? 

The geneticist then ordered a second round of genetic testing which also turned out negative. From there, he told us to go on and live our lives. We would most probably never figure out what was wrong with him and we should go on and live our lives. Enjoy him. My response was simple: “If this was your own child, would you stop here?”

Around eight months ago, after much arguing, I told my son’s geneticist that I wanted him to have the last of the genetic tests done. The doctor told us that we’d essentially be looking for a “red herring”.  He said that this test might not show anything, or it might tell us that he has a genetic mutation that has not yet been researched, which would leave us with even more questions. This test takes your chromosomes and spell checks every single one. But I knew in my gut, call it a mother’s intuition, that there was something, and we were going to get to the bottom of it. I told both my husband and the doctor that I could not live the rest of my life knowing that I had left any stones unturned. The doctor reluctantly agreed to begin the testing. I believe he was afraid that I wouldn’t get the answers I was looking for and would then blame him for it. But as a mother, I needed to know that I had exhausted all possibilities. 

We were told the test would take two to three months to get back. It took four excruciatingly long months. I can still remember the day that the office called us telling us to come in for the results. I was absolutely petrified. We went for our appointment and I remember sitting in one of the patient rooms shaking like I was about to deliver some big speech in front of a million people.

The geneticist came in and said quite frankly, “we got the results and it’s worse than we thought”. Time stopped. I felt like I was in a horror movie. My nightmares were coming true and I was in absolute shock. No one ever thinks something like this can happen to their child, until it does. 

The doctor told us that Jake has a rare genetic syndrome called USP7. So rare, in fact, that Jake was only the 47th documented case. He said that had we done the test last year, they wouldn’t have even found the syndrome yet. 
He then proceeded to tell us everything that could go wrong with our son, as any doctor would have to do. All I remember hearing was hypotonia, feeding issues, speech delays, social problems, impulsivity, anger issues, intellectual disabilities, seizures. The list just kept going. And as the doctor was talking, I sat there looking at my sweet boy and said to myself, “I will never let this define who you are”. 

My family may have been hit with news that we weren’t mentally prepared for, but I know that we are prepared in other ways. First and foremost is our faith in Hashem that He will watch over Jake as He has until now and continue to let him develop and grow into a healthy child, with hopefully minimal issues. He didn’t crawl until 13 months, didn’t walk until 22 months and currently still does not talk at all. But in the twenty-two months that he has been a part of our family, he has brought so much joy to our lives. 

It has now been five months since the initial diagnosis. I often find myself in tears randomly throughout the week when I feel like I’m drowning in stress and worry about Jake’s future. Often times, when I’m lighting shabbos candles, I stand there staring at the candles and look up, begging for an answer. “Please Hashem, please tell me why you gave my family this challenge?” Although I don’t get any immediate answer, I know that this short but very intense journey has changed me as a person but more importantly as a mother. 

Once I realized that my child was going to live a life where he would be swimming against the current, my perspective on life changed. The things in life that used to make me angry, uptight or annoyed were no longer important anymore. 

I used to be a perfectionist to the core. But I suddenly stopped caring if my house was perfectly neat- floors swept, toys put away. Instead, I began to focus my energies on what really mattered- spending time with Jake, engaging him in stimulating activities, taking him outside to explore nature and spending time talking his ear off in the hopes that it would bring about some language. 

Being a mother to a special needs child has shown me how strong I am. It has shown me that I can multitask dozens of appointments each week. That I can put on a brave face during one of Jake’s procedures even when I’m absolutely terrified for him. That I can advocate for my child and be proactive about his care. Jake’s diagnosis has brought out the outspoken “mama bear” I never knew I was. I decided that I couldn’t sit and let time go by without trying to do something for my own child. We traveled to Texas Children’s Hospital for a short appointment with the geneticist who discovered USP7 in the hopes that he could tell us some good news. I made phone calls to top geneticists and researchers at Harvard, Cold Spring Harbor and the NIH. I called countless Biotech companies and pushed for them to add USP7 to their pipeline. But ultimately, I received the same responses; no one could help us. 

Part of the job of the USP7 gene is tumor suppression. Jake only has fifty percent of the functioning USP7 gene. If doctors were to somehow increase the expression of the gene or replace the missing component through gene therapy, it could ultimately cause the levels of USP7 in his body to be too high which could lead to tumor growth. To add to that, the only way to measure levels of USP7 in the body is through a brain biopsy. 

Here I was thinking that I could make a few phone calls and get an easy answer. But this situation is anything but easy. However, that hasn’t stopped me from continuing to make phone calls. I’ve been passed from one person to another and until someone tells me that there is no one left to talk to about a possible treatment, I will keep making those phone calls. I’ve become well-versed in the medical and genetics world and feel that knowledge is power in this situation. We may not have a treatment yet, but I’m confident that one day we will. 

I also realized how strong and resilient my own child was when faced with serious challenges. He has shown both his family and his group of therapists just how much work he is willing to put in to succeed. For such a little boy, he has a tremendous amount of strength. Jake has endured one too many needle pokes and has learned how to walk even though his hypotonia is always fighting against him. Even after months and months of physical therapy, if a stranger saw Jake walking around, they’d think he was walking around like Gumby. All wobbly and out of place. But it doesn’t matter what he looks like. The point is, he worked hard to learn how to walk and he has come so far. 

Most importantly, I have gained an appreciation for the things that we so often take for granted. I live for the moments when Jake takes a step or laughs hysterically at something. He most recently learned how to shake his head “yes” and “no” and in that moment, I was elated because that in itself is a milestone for him. 

So, although I may never understand why I was given, or rather, blessed, with a special needs child, the fact that I can find the pure joy in even the smallest details of Jake’s life is more than enough for me. 

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