The world of genetics, though greatly advanced, is an in depth mystery full of surprises around every corner. It continues to amaze me that we are made so intricately that one little glitch can completely alter ones entire being. A tiny extra segment, a small missing piece or a component in the wrong order or location can change everything! This mysterious world is where our story begins.
When I became pregnant thirteen years ago, I knew there was a small chance my kids could be born with a very rare chromosomal anomaly called Trisomy 4p, as 7 years prior my sister had a son diagnosed with it after 18 months of testing.
The doctors told her there was maybe a 5% chance her siblings could have kids with this rare disorder since the testing showed she had a paracentric inversion on her 4th chromosome that caused the Trisomy 4p to occur. At the time, the statistics were less than 100 documented cases in the world of this disorder.
When my baby came into the world that cold December night, I knew as soon as I looked at him he had Trisomy 4p. There were distinct characteristics I saw and didn't even need the Karyotyping to know. He had an asymmetrical cry, wide spread nipples, rocker bottom feet, and clenched hands (with camptodactyly curled fingers) just to name a few of the obvious signs we were dealing with. Of course, we would need to see a geneticist to get a confirmed diagnosis.
But doing so would prove quite difficult as our family practitioner (who was also our labor and delivery doctor) was in complete denial, reassuring me my baby was fine. Yet, my motherly instinct told me different. After much pleading we were finally given a referral, and the geneticist ordered the karyotyping and my suspicions were confirmed that my son had Trisomy 4p.
From there we started down the list of being seen by numerous specialists at the Children's Hospital. We were seen by a cardiologist where he received the diagnosis of Bi-cuspid Aortic Valve. This condition is stable and needs no additional treatment, except anti-biotic dosing when he has head or neck surgeries.
Next we saw an Orthopedic specialist to inquire about his hands and feet. He was placed in SMAFO braces for his feet, and soft neoprene hand splints.
To address his amblyopia and ptosis issues with his eyes we ended up at an Ophthalmologist. It was here we were hit with many more issues we weren't ready to deal with at the time. Aside from the obvious, they looked into his eyes and noticed he had optic-nerve hypoplasia. This discovery showed we needed to see an Endocrinologist and have testing done to look into thyroid and pituitary conditions.
We ended up in the Endocrinologist's office where we discovered that on top of everything else, we were now dealing with Panhypopituitarism, hypothyroidism and growth hormone deficiency. These conditions would require constant monitoring and hormone replacement therapy. He was started on daily synthetic growth hormone replacement injections at one year old, along with thyroid medication and a cortisol (with an emergency injectable cortisol on hand also). The growth hormone injections will be continued until he has stopped growing, typically through puberty age. The thyroid and cortisol will be with him for life.
At our last appointment we learned he will need to start monthly testosterone injections (we have already done 2 three month cycles of it) within the next year to help progress through puberty and will be continued through the rest of his life.
About three years ago we were outside enjoying our day and he just tipped over stiff as a board in an epileptic seizure. A week later he had another seizure that was a status epilepticus seizure and he was life flighted to our neighboring state where he was placed on anti-epileptic drugs he continues to take to this day.
When our son was about 2 1/2 years old, we were blessed with the birth of our daughter. Going into the ultrasound I had stuck in my mind what the doctors had told me about our chances of having another T4p child. They had said maybe a 10% chance (since we had miscarried a baby prior to this pregnancy that was thought to have had T4p but severe enough to not be viable) and more likely to happen if it were a boy.
So, I was praying for a girl and counting on that slim 10% chance. As the pregnancy progressed we found out it was a girl and everything was looking unremarkable. I had an ideal pregnancy and in the summer of 2005 I delivered a very blue and lifeless baby girl. It seemed like an eternity before she took a breath with the assistance of the medical staff. I finally got to hold her, and after one look...... my heart broke into a million pieces, all my dreams that I had in my mind of having a little girl from first date, proms, weddings and grandbabies slipped away as I looked down and realized she too had T4p!!!
I was so mad, mad at the doctors, the world, God, and myself....how could this happen AGAIN !!! We left the hospital with her, and I knew right away I was going to skip the middle man this time, I called the geneticist myself and he ordered the tests just so we had the confirmation to continue on with the rest of her medical treatments.
It was like a total repeat of what we went through with our son, all the same doctors, the same diagnosis's, even the same medications.
She did have a few extra surprises in store for us though. She had severe reflux that finally required a fundoplication with Nissen surgery to correct it when she was 15 months old. She has also now developed scoliosis with a 57° curvature of her spine which has required bracing.
We also discovered she has Agenesis of the Corpus Collasum (she is missing the membrane between the two hemispheres of the brain that helps them communicate). She will also need to undergo estrogen replacement therapy at puberty age. She will be on a birth control pill to regulate and control her menstrual cycle so she only has 2 periods a year (which is needed to reduce the risk of cancers).
Both kids are significantly delayed in their development; cognitively, gross and fine motor skills. They are in special education classes in school and they both attend speech, occupational and developmental therapies.
They are very active in 4H and dance. They win the hearts of all that they meet and we wouldn't change them for the world.
Two years ago they also become older siblings as we were blessed with another little boy, who after numerous tests we are relieved to say that he is not a carrier of the Trisomy 4p gene or the inversion like myself that causes the T4p.
After the shock of all of the diagnosis and setbacks we have settled into a pretty comfortable existence. Doctors, medications and therapies became our norm and we lived our life in our little bubble, not knowing of anyone other than ourselves and my nephew who dealt with this rare disorder.
However, four years ago I was up late perusing the internet searching for any medical journals or anything I could find that may mention Trisomy 4p. I stumbled across a small personal blog belonging to a lady that mentioned her son had Trisomy 4p. I looked at the pictures of him and was astonished at the resemblance he had to my children.
As I read farther into her blog she mentioned a Facebook page she belonged to of other families that also had Trisomy 4p, so of course I clicked on the link as fast as I could and sent my request to join the group.
The day my request was accepted was the day our lives changed forever. It was like finding the long lost family I had been searching for my entire life; there they were right in front of me, the similarities were unbelievable and we all instantly became like family.
Since then we have been each other's shoulders to cry on during hard times, cheerleaders for happy times, a wealth of knowledge for unknown times and the best support system any of us could have asked for.
Since meeting we have discovered that Trisomy 4p is not necessarily more common in boys than girls, there are numerous variation of the disorder, some have T4p along with other chromosomes effected (a translocation), along with many common additional complications.
One thing they all have is the ability to love and show the best affection. They are all amazing beings who have beaten the odds. As rare as the disorder is the small group of them are beyond amazing. Our group has grown as new babies with Trisomy 4p are born, and lessened, as sadly, we have lost a few sweet little ones.
We have finally been able to get together with some families in person and enjoy each other's company.
There is a blog Friends of 4P and a Facebook page that spotlights many of the children and their struggles and triumphs alike.
"The only disability in life is a bad attitude" - Scott Hamilton
Today's guest poster is Sarah Rodgers. She is a wife and the mother of 3 adorable children. If you would like to connect with her you can reach her at firstname.lastname@example.org.
Labels: Stories, Trisomy 4P