Our precious angel ♡♡

By Nadine, Niemann-Pick disease type A, South Africa, February 29, 2020

Caitlyn

Here we sit thinking that an autism diagnosis was the end of the world. Caitlyn was born on the 20th of May 2012. After a very long 23 hours in labor, we got to see our beautiful baby girl weighing 3.06kg. Caity was a normal quiet baby, got sick often with fevers that would end up with us in the emergency room because of febrile seizures. All seemed ok, untill 9months. Caity went in for her MMR vaccine, not long after developed a fever and rash - turns out she had roseola. I still remember that day, she pulled herself up in her cot saying Nana.. Well my baby girl since then started going backwards. She could no longer say simple baby words and her muscle tone was poor. Caity started crawling eventually at 16months old, but by 18months was still not walking so decided to go see a pediatrician who requested a MRI and blood tests. T

hat day I had to hold down this little girl of mine while they put a mask on her face(anaesthetic) she started drifting away into a deep sleep fighting it as hard as she could. Suddenly she gets grabbed from my arms and nurses shoved me out the door, all I hear is shes not breathing. They rushed to get pipes down her throat and stabilize her, we stood there frozen with tears running down our cheeks. The anaesthetist came out to say she was okay and they going to do the MRI, after the MRI when she was awake I had to carry her to lancet where they had to take blood. My baby was taken from me and taken into a room, where we were told we could not go in. I stood there by the door hearing my baby scream and there was nothing I could do, my husband held me tight while i sobbed in his arms. The next day the doctor told me that all was normal and that we should give time that some kids are just slower..... Caity took her first step at 22months and walking just over 24months. To this day at age 7 caity can only say single words( baby language). Her muscle tone gets worse each year, walking clumsily/stumbling (off balance). She has outbursts of anger and frustration.

Long story short, we have seen numerous doctors in the past 7 years - pediatricians, pediatric neurologists and even a homeopath, all of them said our angel had autism. Caity has had MRI's every year since 18months old and been put on horrible medication. We would drive 320km's twice a week for speech therapy. After all these doctors saying autism, I started doing research and came across an article about stem cell therapy, I immediately thought that was the way to go. Caitlyn's ouma had called one morning telling me she had found a doctor she wants Caitlyn to go see in durban, as she has heard amazing things about him. At that stage my husband and I were sceptical and didn't want to put our poor child through all that stress again as she was petrified of doctors already, because of all shes been through. But we knew we didnt have a choice as she was experiencing pain inflicted seizures, the smallest bump that caused a shock wave of pain would trigger it. (Falling on her knees, bumping head, pinching finger in door) I made the call and got an appointment in August 2019. When we got there, our princess tensed up and one could see the fear in her eyes as we walked into his rooms(leaving oupa,ouma,nanna and her sister in the waiting room). My husband and I took a seat with caity on my husband's lap, the doctor greeted us and then gave caity a look and said,"she is not autistic."

The doctor said her facial features tell him otherwise. Caity is pale, dark under the eyes with beautiful curls (oupa's coil spring) the doctor spoke about a metabolic disease, after him explaining what it was we felt relieved as it didn't sound to bad. He requested that Caitlyn come in to he admitted in October for blood tests, urine samples and again another MRI, but in the meantime put on epilepsy medication. In January 2020 I received blood results from NWU, Caity had a fair amount of protein in urine and Iron deficiency, they were still awaiting results from overseas that they had sent over on their expense. Early in February I received an Email from NWU telling me to contact Caitlyn's doctor asap to make an appointment to discuss final results that came. I immediately contacted the doctor's rooms for an appointment for the 20th of February 2020. When we walked into his room I started praying and hoping that he was going to say shes okay and there is treatment, instead as we sat down he looked at us and told us that unfortunately tests came back positive for niemann-pick type A.

My heart immediately sunk and broke into pieces, all I wanted to do was break down in tears, I froze... I heard my husband asking questions and the doctor saying there is no treatment, it's a extremely rare disease and that my child will continue to deteriorate (Neurologically). I remember reading up about it and our princess is by the grace of god still here with us, as most cases reported kids dont live past their 3rd birthday and here our angel sits nearly 8years old. She can be taken away in a blink of an eye and there is nothing we can do except give her love and affection every day, enjoy the time we given and make every day her best day.. caity cant be treated, her disease will never go away, We can treat symptoms and make her comfortable.... I now wished it was a simple Autism diagnosis. (Niemann-pick type A) 

*Find others with Neimann-Pick type A on RareConnect, the online platform for people affected by rare diseases

 

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