By Chelsea Bell
Jamistyn’s journey started hard from the beginning. I was struggling with infertility. We finally got our positive pregnancy test after a multitude of fertility treatments. As you can imagine, we were ecstatic to welcome this baby boy to our family. He would be joining my husband, myself and our 3-year-old daughter.
I had an absolutely perfect labor and delivery! I was discharged 24 hours after delivery. We went for his newborn check at 2-days-old and I noticed a few spots developing on his leg. The pediatrician that we saw that day thought that it was just the typical newborn rash.
Late that night, the rash got worse by the minute it seemed. Jamistyn developed this very odd, blistery rash up the back of his right leg and a few spots on his torso. The rash went from his heel to his bottom.
More Blisters, Less Answers
We called our amazing pediatrician and she saw him right away. She was not sure what it was, but thought it looked a lot like a herpetic rash. She admitted Jamistyn that afternoon.
My mom is a NICU nurse and thought it would be best for him to be transferred to the NICU at St. John’s in Springfield, Ill. We arrived there very late on a Wednesday night where they immediately started trying to figure out what was going on. My poor 3-day-old baby boy had a spinal tap as soon as he arrived. He was also hooked up to antibiotics and antivirals. He had IVs and monitors all over him. All of the bandages and bands were also making blisters all over his poor skin!
Could It Be IP?
After four days in the NICU and all tests coming back normal, I finally tried a google search. Yes, a google search. I came across incontinentia pigmenti (IP). The rash looked identical to Jamistyn’s, but it basically said males could not get it due to it affecting the X chromosome.
I showed the NICU doctor the next day and he agreed that it was nearly impossible that it was IP. So, after five days in the NICU, we were sent home with an appointment with dermatology. As you can imagine, by this point I was not only scared, but frustrated trying to find answers for my baby!
When we met with the dermatologist, he said it did look a lot like IP, but he wasn’t sure. He took a biopsy of the skin that was affected by the rash. The wait for those results were excruciating.
Finally, about a week later, Dr. Conlon called back. It was after 5 p.m. on a Friday, so in my heart I had this awful feeling that he was getting ready to tell me that it was in fact IP. Sure enough, he did.
Learn More About Incontinentia PigmentiThose next weeks, months and year were a blur to say the least. We were scheduling doctor appointments after doctor appointments. I ended up quitting my job because we weren’t sure how this would affect him. IP can affect the immune system so daycare was not an option that I felt would be best. He also had about one appointment a week the first few months. We saw a geneticist, ophthalmologist, dermatologist, neurologist and our pediatrician and had a million and one tests completed.
Truly Rare
I read NON-STOP trying to educate myself as well. His diagnosis is so rare that most of the doctors that were treating him had never seen it in a female, let alone a male. I will never forget the geneticist telling me as soon as he walked into the room, “He doesn’t have IP. No way.”
He then read his chart and saw the positive skin biopsy. That quickly changed his tone.
Some of the tests that were ran consisted of blood work to test for IP and look at his chromosomal make up. He had his eyes dilated to check his retina as IP can cause multiple eye issues such as retinal detachment, blood vessels that grow abnormally and the need for laser surgery to correct those issues. It can ultimately lead to the loss of eye sight.
Jamistyn’s Symptoms
IP also affects the skin, hair, teeth and central nervous system. Jamistyn had an MRI done at 3-weeks-old. It came back normal. His blood work also came back normal. Therefore, it was determined that Jamistyn had a spontaneous mutation and was somatic mosaic. This means that only some of his DNA was affected, and it was hard to find where the alteration was.
Learn More About Incontinentia Pigmenti StagesAt the age of three, when he was no longer able to sit still enough to have his eyes checked, he was put under anesthesia for his eye exam. Luckily, his eyes are still unaffected by the IP. His dental exams and x-rays have all appeared normal.
Some things that we have noticed is that his skin is very sensitive. He gets rashes often and bug bites seem to turn into hard, blistery bumps that last weeks. His hair is coarser. He doesn’t seem to tolerate the heat as well as his siblings, but he does still sweat unlike some that are affected by IP. He has had a few more blistery break outs over the years. Now, he has what looks like a scar up the back of his leg and where other spots have surfaced.
Learn More About Incontinentia Pigmenti Treatment
He has also lost a few toenails, mostly on his big toe. His nails seem to be “pitted” and fragile, especially his toe nails.
Our Active Boy
Jamistyn is a very active little boy. He loves to play any sports, ride his bike, go camping and ride his 4-wheeler. You would never guess that he has gone through as much as he has in the first few years of his life.
As his mother, this journey has been terrifying but also humbling. I have learned so much about IP and met some wonderful people through support groups. I have also spoken to more and more parents of males affected.
I have made it a mission to help raise awareness and try to find more research and answers regarding IP, especially in males! I hope that by sharing his story, it will help others who might still be looking for answers in their journey.
Chelsea Bell is a guest blogger for the National Foundation for Ectodermal Dysplasias. She lives in Charleston, Ill. with her husband, Corey, and children, Jocelyn, Jamistyn and Cayden.
Hi Chelsea Bell like u i also had to find out on google how to treat my daughter, she was diagnosed with IP when she was 3.No one new what IP was and treated my daughter as a autism child and they still do sins she’s the only child they know with IP. She also had a lot of skin problems when she was still a baby. We know struggling with her abdomen they think it have something to do with the IP. But everything i have read in your story is what i went through, she’s now 13 years old and very much full of life and very humble.
Hi, Gaynor. We love to hear that your daughter is doing well and full of life! If you ever need anything, don’t hesitate to give our office a call at 618-566-2020. We also have a private Facebook group for IP which you can access here: https://www.facebook.com/groups/incontinentiapigmentinfed.
Hello! I am so glad your daughter is so full of life! It is hard to know what is and what is not related to IP. Every time Jamistyn has a new symptom, my first thought is “is this IP related?” I hope that you are able to find more information regarding your daughters IP now. Thank you for sharing!
Hi Chelsea,
Your story read like a chapter from my book. My son is now 15, also a somatic mosaic and spontaneous mutation. Despite many challenges throughout the years, he is doing great overall.
Please email me if you would ever like to connect.
Best,
Raven
Hi! I’m 38 years old male from Chile with IP, and i post, to share some hope i guess…. I have a great life, very active… play sports, Healthy in general, married with two doughters (also with IP). I don’t know any other cases of males with IP, and your sons’s story is very similar to mine. It will be great to share my experience if you like…
Hi, Hector! Thanks so much for reaching out to us. If you would be interested in sharing your story with our NFED community through our blog, please feel free to email me at veronica@nfed.org. Also, if you ever need anything, don’t hesitate to give our office a call at +1-618-566-2020. We also have a private Facebook group for IP which you can access here: https://www.facebook.com/groups/incontinentiapigmentinfed.
Thanks Again,
Veronica
Hi,
My 3 week old baby son has just been confirmed as having IP. Only symptom is the blisters on the back of his leg, although they’ve started to clear up. The hospital said they’ll see us again in 6 months for more tests, they didn’t seem too worried. Trying not to think the worst but also not sure what to do next! Thank you for sharing your story – it’s been reassuring to read.
Hi, Kay and congrats on your baby boy! I wanted to offer a few resources for you, as you begin your journey with your son. First, we have some great information on IP, including stages and treatment recommendations here on our site. This is a good place to get started: https://nfed.org/learn/types/incontinentia-pigmenti/. If you haven’t already, I hope you will consider joining the NFED as a member. It’s free and will ensure you receive information and updates from us. You can get started here: https://nfed.org/join-us/. Finally, we do have a private Facebook group for IP families, which can be a great place to find support. You can join that, here: https://www.facebook.com/groups/incontinentiapigmentinfed. And of course, you can always email us or give us a call, if you have any questions! Welcome to the NFED! – Veronica
Hi everyone. I have just come across this lovely page. I have a 2 year old daughter with IP. She has been diagnosed with IP after a year of birth as the docs were not able to figure what was wrong with her skin. After lots of research and genetic tests they told us it is IP which my daughter has. My daughter is under specialist for eyes and teeth which are the main concern for us. For Her left eye she had laser treatment done under anesthetic. She has few extremely sharp and missing teeths on the right side of her mouth but no teeth at all yet on the left side. This makes it so difficult for my little girl to chew or talk properly. She is now 2 years and 3 months. I noticed recently her nails are also looking chipped and fragile. She has patches on her scalp with very rough hair. With this condition i have been told it does affect patients neurologically. But so so lucky and grateful to have such a smart and cheeky little girl. She is very social and loves to learn new things all the time. I would really appreciate and love to hear stories about girls that are older with IP ans how their lives are, including eye health, teeths, skin etc… thanks xxx
Hi, Tam! Thank you for sharing about your family’s and your daughter’s journey with IP. You may like to connect with other families who have a loved one affected by IP in our private Facebook group. You can connect here: https://www.facebook.com/groups/incontinentiapigmentinfed/. And of course, let us know if you have any questions!
Best,
Veronica