Limbo, testing, more limbo, more testing ...

Hunter was hospitalized with a 24 hour nose bleed last June. We learned that he had less than 5,000 platelets when we received his first set of lab results during that 4 day stay. He received a blood transfusion and two IVIG* treatments the first two days he was in the hospital. However, it wasn't until Hunter was scheduled for bone marrow sampling on the third day that our hematologist, Dr. Hofstra, looked at the morning labs and thought Wiskott-Aldrich syndrome. I remember we were so elated when the nurse told us that Hunter wasn't going to have to go through the bone marrow sampling. Obviously, that elation didn't last when the team of doctors came in and told us what they thought (knew) Hunter's situation actually was.

I remember breaking down for a couple of reasons when they explained the gravity of a WAS diagnosis. The first reason was a child, our son, Hunter, who was a couple weeks short of his first birthday. The second reason was a future child, Harper, created with the same surrogate and egg donor, who had just finished her first trimester in the womb. I also remember the relief I felt when we learned that our surrogate was carrying a girl for the first time after birthing NINE boys. Again, Wiskott-Aldrich syndrome affects only boys. However, the chance remains that Harper will be a WAS carrier. We've decided that we will cross that bridge when we get to it.

It honestly feels like we've been in limbo since that morning in the hospital. Initially, we had to wait until the second week of August for lab results confirming that Hunter definitively had WAS. Then we had to wait 3 months for the August IVIG to wear off so that our immunologist, Dr. Church, could conduct testing on Hunter's immune system. Then we had to wait for our egg donor to get tested to see if she was a WAS carrier, which she was. Then we had to wait another month for the results of Dr. Church's testing, which didn't give us the answers we were looking for. Then Hunter had testing done by another immunologist, Dr. Ochs, at Children's Hospital in Seattle in February. We have one more blood draw this Thursday and then, hopefully, we'll have results that will provide us with a direction to move forward in.

Wow, is it almost May?!

* A blood product administered intravenously that contains immunoglobulins (antibodies extracted from the plasma of over a thousand blood donors).

What are the chances?

There are two things, among many, I've learned about WAS that simply blow me away. The first is that because Wiskott-Aldrich syndrome results from an X-linked recessive trait, it affects only males. The second is that about 4 out of every 1 million boys born in the United States have WAS.

I think about "X-linked recessive trait" often. It could probably make me crazy if I let it. The reason being is that my partner and I created our family with the help of a gestational surrogate and an egg donor. We looked at hundreds and hundreds of egg donor profiles, both proven and first timers. We also looked at anonymous, semi-anonymous and known donors. Initially, we only thought of going with a proven donor with no consideration of whether she was anonymous to us or not. We thought the odds of a pregnancy would be better with a proven donor. However, after hours and hours of back and forth discussion, we kept coming back to the profile of a first timer. She was intelligent, thoughtful, athletic and detail oriented, as well as beautiful. We figured all of the proven donors got their start somewhere. We were willing to give her that start.

Our donor and her family's medical history were clean as a whistle based on her profile, which we considered another positive. All of the medical tests done by our fertility clinic came back clean as well. However, it turns out that our egg donor was a WAS carrier and she didn't even know it.
Really?! What are the chances?!

This question leads me to the second thing I've learned. The odds of being born with WAS in the United States if you're a boy is 1 in 250,000. Once again, that is 4 in a million.
Really, those are the chances.

My partner often reminds me that if we hadn't chosen this particular donor, although we might have a child, we wouldn't have Hunter. A world without Hunter is something I can't even imagine. So, in all honesty, I need to let the fact that we chose this egg donor go.

How does Wiskott-Aldrich affect Hunter?

Wiskott-Aldrich expresses itself in every person differently. While Hunter does not seem to have a classic case of the syndrome his platelets* are severely affected. We first found about his low platelet level, quite by accident, when he was two and a half months old. He had 31,000 platelets at that time. A normal person has between 150,000 and 400,000 platelets. Hunter has had fewer than 5000 since August of 2008. This means the platelets in his blood are undetectable.

When a person has less than 15,000 platelets there is a strong concern about an injury to the head and bleeding on the brain. Hunter wears a soft helmet as a safety precaution when he is active. No matter how careful Hunter is or how careful we are with Hunter bruises, patichea and contusions present themselves all over his body at any time.

* A platelet is a type of blood cell that helps prevent bleeding by causing blood clots to form.

What is Wiskott-Aldrich syndrome?

Wiskott-Aldrich syndrome (WAS) is a primary
immunodeficiency disease.

In its classic form, WAS has a characteristic
pattern of findings that include:
1. Increased tendency to bleed caused by a
significantly reduced number of platelets
2. Recurrent bacterial, viral and fungal infections
3. Eczema of the skin
In addition, long term observations of patients
with WAS have revealed an increased incidence of
malignancies, including lymphoma and leukemia,
and an increased incidence of a variety of
autoimmune diseases in many patients.

* For more information regarding WAS I've included a link to a website that was helpful to us when Hunter was initially diagnosed.

http://www.info4pi.org/aboutPI/index.cfm?section=aboutPI&content=syndromes&area=14&CFID=33608174&CFTOKEN=52371757